Variant report

Variant	nsv1056343
Chromosome Location	chr22:21007607-21460658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12760)
CpG islands
(count:11058)
Chromatin interactive
region (count:764)
LncRNA
region (count:54)
Mature miRNA
region (count: 1)
miRNA target
sites (count:7)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:21213741-21213769	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:21336102-21336508	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:21128010-21128796	HepG2	liver:	n/a	n/a
4	ARID3A	chr22:21206524-21206781	K562	blood:	n/a	n/a
5	ARID3A	chr22:21015225-21015230	K562	blood:	n/a	n/a
6	ARID3A	chr22:21212409-21213622	K562	blood:	n/a	n/a
7	ARID3A	chr22:21096103-21096399	K562	blood:	n/a	n/a
8	ARID3A	chr22:21126306-21126800	HepG2	liver:	n/a	n/a
9	ARID3A	chr22:21335703-21336818	K562	blood:	n/a	n/a
10	ARID3A	chr22:21411015-21411440	K562	blood:	n/a	n/a
11	ARID3A	chr22:21144934-21145697	HepG2	liver:	n/a	n/a
12	ARID3A	chr22:21019563-21019645	K562	blood:	n/a	n/a
13	ARID3A	chr22:21123290-21123644	K562	blood:	n/a	n/a
14	ARID3A	chr22:21051836-21052046	K562	blood:	n/a	n/a
15	ARID3A	chr22:21316156-21316517	HepG2	liver:	n/a	n/a
16	ARID3A	chr22:21258970-21259220	K562	blood:	n/a	n/a
17	ARID3A	chr22:21180789-21181459	HepG2	liver:	n/a	n/a
18	ARID3A	chr22:21199822-21199994	HepG2	liver:	n/a	n/a
19	ARID3A	chr22:21062115-21062227	HepG2	liver:	n/a	n/a
20	ARID3A	chr22:21452454-21452781	K562	blood:	n/a	n/a
21	ARID3A	chr22:21212522-21213427	HepG2	liver:	n/a	n/a
22	ARID3A	chr22:21027315-21027782	K562	blood:	n/a	n/a
23	ARID3A	chr22:21318868-21318889	K562	blood:	n/a	n/a
24	ARID3A	chr22:21258921-21259221	HepG2	liver:	n/a	n/a
25	ARID3A	chr22:21400014-21400255	K562	blood:	n/a	n/a
26	ARID3A	chr22:21131858-21132477	HepG2	liver:	n/a	n/a
27	ARID3A	chr22:21456951-21457433	K562	blood:	n/a	n/a
28	ARID3A	chr22:21305399-21307325	HepG2	liver:	n/a	n/a
29	ARID3A	chr22:21136046-21136432	K562	blood:	n/a	n/a
30	ARID3A	chr22:21276598-21276907	K562	blood:	n/a	chr22:21276684-21276700
31	ARID3A	chr22:21239712-21240417	K562	blood:	n/a	n/a
32	ARID3A	chr22:21356497-21356746	HepG2	liver:	n/a	n/a
33	ARID3A	chr22:21308256-21308469	HepG2	liver:	n/a	n/a
34	ARID3A	chr22:21211166-21212153	K562	blood:	n/a	n/a
35	ARID3A	chr22:21096149-21096341	HepG2	liver:	n/a	n/a
36	ARID3A	chr22:21243955-21243958	K562	blood:	n/a	n/a
37	ARID3A	chr22:21355932-21357355	K562	blood:	n/a	n/a
38	ARID3A	chr22:21418438-21418520	K562	blood:	n/a	n/a
39	ARID3A	chr22:21158342-21158499	K562	blood:	n/a	n/a
40	ARID3A	chr22:21137939-21138928	K562	blood:	n/a	n/a
41	ARID3A	chr22:21303812-21304518	HepG2	liver:	n/a	n/a
42	ARID3A	chr22:21273301-21274517	K562	blood:	n/a	n/a
43	ARID3A	chr22:21358157-21358159	HepG2	liver:	n/a	n/a
44	ARID3A	chr22:21316160-21316502	K562	blood:	n/a	n/a
45	ARID3A	chr22:21270949-21271825	K562	blood:	n/a	n/a
46	ARID3A	chr22:21310657-21310691	HepG2	liver:	n/a	n/a
47	ARID3A	chr22:21130895-21131345	HepG2	liver:	n/a	n/a
48	ARID3A	chr22:21334435-21334468	HepG2	liver:	n/a	n/a
49	ARID3A	chr22:21271277-21271724	HepG2	liver:	n/a	n/a
50	ARID3A	chr22:21208609-21208892	HepG2	liver:	n/a	n/a

(count:11058 , 50 per page) page: 1 2 3 4 5 6 7 ... 222

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21025079-21025129	SK-N-SH	brain:	n/a
2	chr22:21307595-21307645	GM06990	blood:	n/a
3	chr22:21400059-21400109	NHBE	bronchial:	n/a
4	chr22:21018314-21018364	HRE	kidney:	n/a
5	chr22:21368419-21368469	GM12891	blood:	n/a
6	chr22:21356784-21356834	K562	blood:	n/a
7	chr22:21062381-21062431	AG10803	skin:	n/a
8	chr22:21311401-21311451	GM19239	blood:	n/a
9	chr22:21058792-21058842	Jurkat	blood:	n/a
10	chr22:21356477-21356527	AoSMC	blood vessel:	n/a
11	chr22:21386798-21386848	SK-N-SH_RA	brain:	n/a
12	chr22:21058190-21058240	A549	lung:	n/a
13	chr22:21386885-21386935	AG04449	skin:	fetal
14	chr22:21213387-21213437	HCT-116	colon:	n/a
15	chr22:21018314-21018364	MCF10A-Er-Src	breast:	n/a
16	chr22:21369411-21369461	HPAEpiC	pulmonary alveolar:	n/a
17	chr22:21336337-21336387	Hela-S3	cervix:	n/a
18	chr22:21025079-21025129	SK-N-SH	brain:	n/a
19	chr22:21307595-21307645	GM06990	blood:	n/a
20	chr22:21400059-21400109	NHBE	bronchial:	n/a
21	chr22:21018314-21018364	HRE	kidney:	n/a
22	chr22:21368419-21368469	GM12891	blood:	n/a
23	chr22:21356784-21356834	K562	blood:	n/a
24	chr22:21062381-21062431	AG10803	skin:	n/a
25	chr22:21311401-21311451	GM19239	blood:	n/a
26	chr22:21058792-21058842	Jurkat	blood:	n/a
27	chr22:21356477-21356527	AoSMC	blood vessel:	n/a
28	chr22:21386798-21386848	SK-N-SH_RA	brain:	n/a
29	chr22:21058190-21058240	A549	lung:	n/a
30	chr22:21386885-21386935	AG04449	skin:	fetal
31	chr22:21213387-21213437	HCT-116	colon:	n/a
32	chr22:21018314-21018364	MCF10A-Er-Src	breast:	n/a
33	chr22:21369411-21369461	HPAEpiC	pulmonary alveolar:	n/a
34	chr22:21336337-21336387	Hela-S3	cervix:	n/a
35	chr22:21356069-21356119	AG04449	skin:	fetal
36	chr22:21059300-21059350	NHDF-neo	bronchial:	n/a
37	chr22:21213087-21213137	HL-60	blood:	n/a
38	chr22:21090121-21090171	NHDF-neo	bronchial:	n/a
39	chr22:21359962-21360012	HEK293	kidney:	embryo
40	chr22:21398553-21398603	AG04449	skin:	fetal
41	chr22:21368419-21368469	HCT-116	colon:	n/a
42	chr22:21356472-21356522	PANC-1	pancreas:	n/a
43	chr22:21353809-21353859	LNCaP	prostate:	n/a
44	chr22:21212912-21212962	BE2_C	brain:	n/a
45	chr22:21368291-21368341	HCM	heart:	n/a
46	chr22:21359962-21360012	AG09319	gingival:	n/a
47	chr22:21018314-21018364	H1-hESC	embryonic stem cell:	embryo
48	chr22:21213158-21213208	NB4	blood:	n/a
49	chr22:21213549-21213599	AG09309	skin:	n/a
50	chr22:21022300-21022350	GM19239	blood:	n/a

(count:764 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Distal block	Cell Line	Cell type
1	chr22:21114779..21116870-chr22:21126870..21129294,2	MCF-7	breast:
2	chr22:21167067..21170981-chr22:21178961..21182573,5	K562	blood:
3	chr22:21270165..21272988-chr22:21455197..21456764,2	MCF-7	breast:
4	chr22:21239577..21240093-chr22:21310346..21311099,2	MCF-7	breast:
5	chr22:21209752..21215098-chr22:21353821..21358065,10	K562	blood:
6	chr22:21271593..21273644-chr22:21293035..21294991,2	MCF-7	breast:
7	chr15:69744587..69745455-chr22:21335664..21336514,2	Hela-S3	cervix:
8	chr22:21156833..21159300-chr22:21175359..21177684,2	K562	blood:
9	chr22:21394676..21396579-chr22:21432484..21435517,3	K562	blood:
10	chr22:21270348..21272622-chr22:21318614..21320908,2	K562	blood:
11	chr22:21450259..21452150-chr22:21453266..21455046,2	K562	blood:
12	chr22:21453029..21455213-chr22:21459459..21461681,2	K562	blood:
13	chr22:21159101..21161962-chr22:21211576..21214780,4	MCF-7	breast:
14	chr22:21279143..21280750-chr22:21349268..21351265,2	K562	blood:
15	chr22:21096490..21099108-chr22:21119593..21122018,2	MCF-7	breast:
16	chr22:21136786..21139602-chr22:21274956..21276673,2	K562	blood:
17	chr22:21211357..21214164-chr22:21234517..21236313,2	MCF-7	breast:
18	chr22:21211398..21216606-chr22:21269856..21277240,16	K562	blood:
19	chr22:21151377..21154274-chr22:21272566..21275266,2	K562	blood:
20	chr22:21236577..21238171-chr22:21256094..21257599,2	K562	blood:
21	chr22:20959018..20959879-chr22:21051703..21052527,4	K562	blood:
22	chr22:21211521..21214725-chr22:21293376..21297102,4	K562	blood:
23	chr22:21211297..21213671-chr22:21303831..21305484,2	K562	blood:
24	chr22:21194164..21196400-chr22:21273221..21275742,2	MCF-7	breast:
25	chr17:56709049..56710676-chr22:21271252..21273493,2	MCF-7	breast:
26	chr22:21152424..21153958-chr22:21216588..21219502,2	K562	blood:
27	chr22:21408171..21411191-chr22:21423265..21425738,3	K562	blood:
28	chr22:21212187..21213709-chr22:21260592..21263016,2	K562	blood:
29	chr22:21221289..21223740-chr22:21270784..21272511,2	MCF-7	breast:
30	chr22:21335461..21338155-chr22:21412915..21415720,2	K562	blood:
31	chr11:62607700..62610637-chr22:21269739..21272189,2	K562	blood:
32	chr19:2050817..2051591-chr22:21213025..21213623,2	HCT-116	colon:
33	chr22:21366999..21368578-chr22:21995007..21997962,2	K562	blood:
34	chr22:21126419..21129593-chr22:21135524..21138415,3	K562	blood:
35	chr22:21163865..21165913-chr22:21167844..21169347,2	K562	blood:
36	chr22:21270616..21273773-chr22:21299975..21303107,4	K562	blood:
37	chr22:21370645..21373492-chr22:21426100..21428650,2	K562	blood:
38	chr22:21427520..21431698-chr22:21432126..21436010,5	K562	blood:
39	chr22:21210334..21214913-chr22:21348473..21351457,4	K562	blood:
40	chr22:21354919..21360607-chr22:21367214..21371527,6	MCF-7	breast:
41	chr22:21032091..21033597-chr22:21414916..21416423,2	K562	blood:
42	chr22:21355227..21358354-chr22:21455605..21457626,3	K562	blood:
43	chr22:21148581..21151071-chr22:21305663..21308417,3	K562	blood:
44	chr22:21072879..21076783-chr22:21082622..21085708,3	K562	blood:
45	chr22:21238656..21240386-chr22:21271053..21273170,2	MCF-7	breast:
46	chr22:21138653..21141589-chr22:21196692..21199399,2	K562	blood:
47	chr22:21363016..21365671-chr22:21398364..21400797,2	MCF-7	breast:
48	chr22:21167876..21169475-chr22:21171754..21174431,2	K562	blood:
49	chr22:21156833..21159300-chr22:21175359..21177684,2	K562	blood:
50	chr22:21368793..21370356-chr22:21455117..21457274,2	K562	blood:

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No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-P2RX6-1	chr22:21408238-21408286	XLOC_014162
2	lnc-THAP7-2	chr22:21365632-21365797	NONHSAT083621
3	lnc-LZTR1-2	chr22:21319465-21319495	NONHSAT083607
4	lnc-POM121L4P-1	chr22:21058256-21058471	NONHSAT083589
5	lnc-P2RX6-1	chr22:21410800-21411489	XLOC_014162
6	lnc-POM121L4P-2	chr22:21078529-21080208	ENSG00000234252
7	lnc-POM121L4P-3	chr22:21043843-21046009	NR_024592
8	lnc-PI4KA-2	chr22:21243494-21243551	ENSG00000272600.1
9	lnc-AC007308.1-1	chr22:21080604-21080829	NONHSAT083592
10	lnc-LZTR1-2	chr22:21320794-21321324	NONHSAT083607
11	lnc-POM121L4P-2	chr22:21077335-21078054	ENSG00000234252
12	lnc-THAP7-2	chr22:21365263-21365547	NONHSAT083621
13	lnc-POM121L4P-1	chr22:21057697-21057812	NONHSAT083589
14	lnc-THAP7-4	chr22:21318680-21318877	NONHSAT083606
15	lnc-AIFM3-1	chr22:21311380-21311774	ENSG00000237476
16	lnc-POM121L4P-1	chr22:21058476-21058510	NONHSAT083590
17	lnc-POM121L4P-1	chr22:21058599-21058846	ENSG00000226287
18	lnc-P2RX6-1	chr22:21414662-21414866	XLOC_014162
19	lnc-POM121L4P-1	chr22:21058004-21058328	ENSG00000226287
20	lnc-P2RX6-1	chr22:21414662-21414866	XLOC_014162
21	lnc-LZTR1-1	chr22:21356211-21357118	ENSG00000230513.1
22	lnc-POM121L4P-1	chr22:21058599-21058673	NONHSAT083590
23	lnc-P2RX6-1	chr22:21402173-21403179	XLOC_014162
24	lnc-P2RX6-1	chr22:21410819-21411489	NONHSAT147203
25	lnc-P2RX6-1	chr22:21414662-21414686	NONHSAT147203
26	lnc-P2RX6-1	chr22:21401645-21401787	XLOC_014162
27	lnc-AC007308.1-1	chr22:21081518-21081581	NONHSAT083592
28	lnc-AIFM3-1	chr22:21311377-21311774	NONHSAT083604
29	lnc-POM121L4P-1	chr22:21055220-21055955	ENSG00000226287
30	lnc-POM121L4P-1	chr22:21057993-21058039	NONHSAT083590
31	lnc-POM121L4P-1	chr22:21057921-21057980	NONHSAT083589
32	lnc-POM121L4P-1	chr22:21058476-21058516	ENSG00000226287
33	lnc-AIFM3-1	chr22:21318679-21318877	XLOC_014161
34	lnc-P2RX6-1	chr22:21411225-21411489	XLOC_014162
35	lnc-LZTR1-2	chr22:21319556-21319763	NONHSAT083608
36	lnc-AIFM3-1	chr22:21318679-21318967	ENSG00000237476
37	lnc-AIFM3-1	chr22:21319132-21319360	NONHSAT083604
38	lnc-LZTR1-2	chr22:21320794-21321086	NONHSAT083608
39	lnc-CRKL-2	chr22:21268759-21269414	NONHSAT083600
40	lnc-P2RX6-1	chr22:21409387-21409465	XLOC_014162
41	lnc-CRKL-2	chr22:21265337-21265794	NONHSAT083600
42	lnc-AIFM3-1	chr22:21318679-21318929	NONHSAT083604
43	lnc-AIFM3-1	chr22:21311380-21311774	NR_110537
44	lnc-P2RX6-1	chr22:21416013-21416553	XLOC_014162
45	lnc-POM121L4P-1	chr22:21058256-21058330	NONHSAT083590
46	lnc-THAP7-4	chr22:21311692-21311774	NONHSAT083606
47	lnc-P2RX6-1	chr22:21416013-21416630	XLOC_014162
48	lnc-AIFM3-1	chr22:21311691-21311774	XLOC_014161
49	lnc-CRKL-2	chr22:21269543-21270094	NONHSAT083600
50	lnc-AIFM3-1	chr22:21318679-21318968	NR_110537

miRNA name	Chromosome Location	mirBase accession
hsa-miR-649	chr22:21388480-21388501	MIMAT0003319

(count:7 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SNAP29	hsa-miR-155-5p	chr22:21244020-21244043
2	CRKL	hsa-miR-16-5p	chr22:21304153-21304159
3	CRKL	hsa-miR-29a-3p	chr22:21307830-21307851
4	CRKL	hsa-miR-16-5p	chr22:21305526-21305532
5	AIFM3	hsa-miR-210-3p	chr22:21335617-21335638
6	CRKL	hsa-miR-16-5p	chr22:21304140-21304160
7	LZTR1	hsa-miR-15b-5p	chr22:21348848-21348869

Variant related genes	Relation type
TUBA3GP	TF binding region
ENSG00000269103	TF binding region
SERPIND1	TF binding region
ENSG00000272600	TF binding region
SNAP29	TF binding region
P2RX6	TF binding region
SLC7A4	TF binding region
TMEM191A	TF binding region
THAP7-AS1	TF binding region
CRKL	TF binding region
PI4KA	TF binding region
BCRP5	TF binding region
MIR649	TF binding region
ENSG00000226872	TF binding region
P2RX6P	TF binding region
POM121L4P	TF binding region
ABHD17AP4	TF binding region
TUBA3FP	TF binding region
SMPD4P1	TF binding region
BCRP2	TF binding region
THAP7	TF binding region
AIFM3	TF binding region
ENSG00000187905	TF binding region
LZTR1	TF binding region
RN7SL389P	TF binding region
ENSG00000237476	TF binding region
ENSG00000234252	TF binding region
ENSG00000264718	TF binding region
ENSG00000272829	TF binding region
TUBA3GP	CpG island
ENSG00000269103	CpG island
SERPIND1	CpG island
ENSG00000272600	CpG island
SNAP29	CpG island
P2RX6	CpG island
SLC7A4	CpG island
TMEM191A	CpG island
THAP7-AS1	CpG island
CRKL	CpG island
PI4KA	CpG island
BCRP5	CpG island
MIR649	CpG island
ENSG00000226872	CpG island
P2RX6P	CpG island
POM121L4P	CpG island
ABHD17AP4	CpG island
TUBA3FP	CpG island
SMPD4P1	CpG island
BCRP2	CpG island
THAP7	CpG island
AIFM3	CpG island
ENSG00000187905	CpG island
LZTR1	CpG island
RN7SL389P	CpG island
ENSG00000237476	CpG island
ENSG00000234252	CpG island
ENSG00000264718	CpG island
ENSG00000272829	CpG island
ENSG00000161132	chromatin interactions
ENSG00000207751	chromatin interactions
ENSG00000151414	chromatin interactions
ENSG00000273342	chromatin interactions
ENSG00000169668	chromatin interactions
ENSG00000099957	chromatin interactions
ENSG00000124529	chromatin interactions
ENSG00000255384	chromatin interactions
ENSG00000099940	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000184436	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000235884	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000183155	chromatin interactions
ENSG00000255198	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000223553	chromatin interactions
ENSG00000269103	chromatin interactions
ENSG00000099949	chromatin interactions
ENSG00000236003	chromatin interactions
ENSG00000272600	chromatin interactions
ENSG00000237476	chromatin interactions
ENSG00000161149	chromatin interactions
ENSG00000152254	chromatin interactions
ENSG00000137818	chromatin interactions
ENSG00000124942	chromatin interactions
ENSG00000196532	chromatin interactions
ENSG00000185252	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000099960	chromatin interactions
ENSG00000234252	chromatin interactions
ENSG00000099875	chromatin interactions
ENSG00000116266	chromatin interactions
ENSG00000162604	chromatin interactions
ENSG00000099942	chromatin interactions
ENSG00000183773	chromatin interactions
ENSG00000099910	chromatin interactions
ENSG00000235062	chromatin interactions
ENSG00000272829	chromatin interactions
ENSG00000182704	chromatin interactions
ENSG00000196562	chromatin interactions
ENSG00000140988	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000187905	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000099937	chromatin interactions
ENSG00000249680	chromatin interactions
ENSG00000226287	chromatin interactions
ENSG00000141101	chromatin interactions
ENSG00000241973	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000206145	chromatin interactions
ENSG00000159445	chromatin interactions
ENSG00000207575	chromatin interactions
ENSG00000266366	chromatin interactions
ENSG00000099917	chromatin interactions
ENSG00000264718	chromatin interactions
ENSG00000198518	chromatin interactions
ENSG00000230513	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000119231	chromatin interactions
ENSG00000229107	chromatin interactions
DOCK5	miRNA target sites
NGRN	miRNA target sites
ARHGEF18	miRNA target sites
ARHGEF2	miRNA target sites
ARHGEF3	miRNA target sites
H2AFX	miRNA target sites
PPP2R1A	miRNA target sites

Extended variants
information (count: 20723 )
Associated
traits (count: 236 )

Variant overlapped rSNPs/rCNVs (count:20723 , 50 per page) page: 1 2 3 4 5 6 7 ... 415

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536034230	chr22:21007614-21007615	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs113024983	chr22:21007628-21007629	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs367807783	chr22:21007648-21007649	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372039329	chr22:21007687-21007688	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs371477532	chr22:21007690-21007691	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536969275	chr22:21007701-21007702	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs9612562	chr22:21007726-21007727	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186440879	chr22:21007765-21007766	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs190851827	chr22:21007796-21007797	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs544514423	chr22:21007799-21007800	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561211247	chr22:21007810-21007811	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs570598507	chr22:21007823-21007824	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs374930331	chr22:21007860-21007861	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs114303473	chr22:21007964-21007965	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546906228	chr22:21007989-21007990	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560720848	chr22:21008058-21008059	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs372427140	chr22:21008064-21008065	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs377147785	chr22:21008079-21008080	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs577097995	chr22:21008093-21008094	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs139077704	chr22:21008146-21008147	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs635095	chr22:21008167-21008168	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs531695106	chr22:21008186-21008187	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550917382	chr22:21008201-21008202	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs183000707	chr22:21008202-21008203	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs149886158	chr22:21008209-21008210	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs552935709	chr22:21008225-21008226	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs187294349	chr22:21008242-21008243	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs374577363	chr22:21008247-21008248	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs538361742	chr22:21008280-21008281	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs74530624	chr22:21008284-21008285	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs543775572	chr22:21008285-21008286	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs554120530	chr22:21008353-21008354	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs116289367	chr22:21008378-21008379	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs540908847	chr22:21008384-21008385	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs191496238	chr22:21008438-21008439	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs532692286	chr22:21008440-21008441	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs546327573	chr22:21008479-21008480	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs144885397	chr22:21008544-21008545	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs78920769	chr22:21008563-21008564	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs73877733	chr22:21008614-21008615	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs373275441	chr22:21008638-21008639	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs548638044	chr22:21008640-21008641	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs149123225	chr22:21008654-21008655	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs370621027	chr22:21008662-21008663	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs371234071	chr22:21008679-21008680	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs546830019	chr22:21008691-21008692	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs367570034	chr22:21008694-21008695	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs73388224	chr22:21008735-21008736	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs538794379	chr22:21008772-21008773	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs114723063	chr22:21008784-21008785	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:236)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	22286061	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	19521722	CNVD
Digeorge syndrome	19521722	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Mental retardation	17124404	CNVD
Tourette syndrome	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Schizophrenia	17160897	CNVD
Cancer	17160897	CNVD
Neuropsychiatric disorder	20069037	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
22q11.2 deletion syndrome	22563040	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Developmental delay	21147756	CNVD
Type 2 diabetes	21526130	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Neuroblastoma	18923191	CNVD
Prader-willi syndrome	20588305	CNVD
T-cell acute lymphoblastic leukemia	21980252	CNVD
22q11.22 microdeletion syndrome	19193630	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Multiple myeloma	17550852	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Melanoma	20877625	CNVD
Schizophrenia	20967226	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD

Chromatin state (count:15506 , 50 per page) page: 1 2 3 4 5 6 7 ... 311

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21003400-21016200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:21006800-21009400	Strong transcription	Right Atrium	heart
3	chr22:21007600-21008200	Bivalent Enhancer	K562	blood
4	chr22:21008400-21009000	Enhancers	Lung	lung
5	chr22:21008400-21009800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr22:21008600-21009400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr22:21008800-21009800	Enhancers	Fetal Lung	lung
8	chr22:21009000-21009200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr22:21009000-21009400	Enhancers	Fetal Intestine Small	intestine
10	chr22:21009000-21009400	Enhancers	Psoas Muscle	Psoas
11	chr22:21009400-21010800	Weak transcription	Right Atrium	heart
12	chr22:21010000-21010200	Bivalent/Poised TSS	K562	blood
13	chr22:21010200-21010400	Active TSS	K562	blood
14	chr22:21010400-21010800	Bivalent/Poised TSS	K562	blood
15	chr22:21010800-21011200	Strong transcription	Right Atrium	heart
16	chr22:21010800-21011200	Flanking Bivalent TSS/Enh	K562	blood
17	chr22:21011000-21011200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr22:21011200-21011400	Bivalent Enhancer	K562	blood
19	chr22:21011200-21018200	Weak transcription	Right Atrium	heart
20	chr22:21011400-21011800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:21011400-21011800	Enhancers	Spleen	Spleen
22	chr22:21011400-21011800	Flanking Bivalent TSS/Enh	K562	blood
23	chr22:21011600-21012000	Active TSS	HepG2	liver
24	chr22:21011800-21013600	Bivalent/Poised TSS	K562	blood
25	chr22:21016200-21016400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr22:21017800-21018600	Enhancers	NHEK	skin
27	chr22:21018000-21018400	Enhancers	HMEC	breast
28	chr22:21018000-21018600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr22:21018000-21018600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:21018000-21019000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr22:21018200-21019000	ZNF genes & repeats	Right Atrium	heart
32	chr22:21019000-21025200	Weak transcription	Right Atrium	heart
33	chr22:21024800-21025000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr22:21024800-21025200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr22:21025000-21025600	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr22:21025000-21025600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:21025000-21025600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:21025000-21025800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr22:21025200-21025400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr22:21025200-21025400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr22:21025200-21025400	Bivalent Enhancer	Fetal Brain Male	brain
42	chr22:21025200-21025400	Bivalent Enhancer	HMEC	breast
43	chr22:21025200-21025400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
44	chr22:21025200-21025600	Enhancers	Primary hematopoietic stem cells	blood
45	chr22:21025200-21025600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
46	chr22:21025200-21025600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr22:21025200-21025600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:21025200-21025600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr22:21025200-21025600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr22:21025200-21025600	Strong transcription	Right Atrium	heart

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