Variant report

Variant	nsv1067074
Chromosome Location	chr22:20739124-21440654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19953)
CpG islands
(count:16989)
Chromatin interactive
region (count:1171)
LncRNA
region (count:93)
Mature miRNA
region (count: 1)
miRNA target
sites (count:7)

(count:19953 , 50 per page) page: 1 2 3 4 5 6 7 ... 400

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:20850264-20851105	K562	blood:	n/a	n/a
2	ARID3A	chr22:21128010-21128796	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:21137939-21138928	K562	blood:	n/a	n/a
4	ARID3A	chr22:20903465-20903886	K562	blood:	n/a	n/a
5	ARID3A	chr22:21212409-21213622	K562	blood:	n/a	n/a
6	ARID3A	chr22:20850352-20851083	HepG2	liver:	n/a	n/a
7	ARID3A	chr22:21131858-21132477	HepG2	liver:	n/a	n/a
8	ARID3A	chr22:21123290-21123644	K562	blood:	n/a	n/a
9	ARID3A	chr22:21258970-21259220	K562	blood:	n/a	n/a
10	ARID3A	chr22:21206524-21206781	K562	blood:	n/a	n/a
11	ARID3A	chr22:21303812-21304518	HepG2	liver:	n/a	n/a
12	ARID3A	chr22:21158342-21158499	K562	blood:	n/a	n/a
13	ARID3A	chr22:21400014-21400255	K562	blood:	n/a	n/a
14	ARID3A	chr22:20863614-20864160	HepG2	liver:	n/a	n/a
15	ARID3A	chr22:21212522-21213427	HepG2	liver:	n/a	n/a
16	ARID3A	chr22:21136046-21136432	K562	blood:	n/a	n/a
17	ARID3A	chr22:21270949-21271825	K562	blood:	n/a	n/a
18	ARID3A	chr22:20918551-20918947	K562	blood:	n/a	n/a
19	ARID3A	chr22:21180789-21181459	HepG2	liver:	n/a	n/a
20	ARID3A	chr22:21276598-21276907	K562	blood:	n/a	chr22:21276684-21276700
21	ARID3A	chr22:21239825-21240384	HepG2	liver:	n/a	n/a
22	ARID3A	chr22:21015225-21015230	K562	blood:	n/a	n/a
23	ARID3A	chr22:21126306-21126800	HepG2	liver:	n/a	n/a
24	ARID3A	chr22:21316156-21316517	HepG2	liver:	n/a	n/a
25	ARID3A	chr22:21062115-21062227	HepG2	liver:	n/a	n/a
26	ARID3A	chr22:20899932-20900833	K562	blood:	n/a	n/a
27	ARID3A	chr22:21243955-21243958	K562	blood:	n/a	n/a
28	ARID3A	chr22:20849263-20849320	K562	blood:	n/a	n/a
29	ARID3A	chr22:21334435-21334468	HepG2	liver:	n/a	n/a
30	ARID3A	chr22:20911159-20912064	K562	blood:	n/a	n/a
31	ARID3A	chr22:21019563-21019645	K562	blood:	n/a	n/a
32	ARID3A	chr22:21418438-21418520	K562	blood:	n/a	n/a
33	ARID3A	chr22:21271277-21271724	HepG2	liver:	n/a	n/a
34	ARID3A	chr22:20931960-20932114	K562	blood:	n/a	n/a
35	ARID3A	chr22:20849654-20849783	K562	blood:	n/a	n/a
36	ARID3A	chr22:21316160-21316502	K562	blood:	n/a	n/a
37	ARID3A	chr22:21310657-21310691	HepG2	liver:	n/a	n/a
38	ARID3A	chr22:20907171-20907744	HepG2	liver:	n/a	n/a
39	ARID3A	chr22:20982073-20982201	K562	blood:	n/a	n/a
40	ARID3A	chr22:21411015-21411440	K562	blood:	n/a	n/a
41	ARID3A	chr22:21318868-21318889	K562	blood:	n/a	n/a
42	ARID3A	chr22:21006086-21006109	K562	blood:	n/a	n/a
43	ARID3A	chr22:21130895-21131345	HepG2	liver:	n/a	n/a
44	ARID3A	chr22:21213741-21213769	HepG2	liver:	n/a	n/a
45	ARID3A	chr22:20748054-20748615	K562	blood:	n/a	n/a
46	ARID3A	chr22:20772477-20772777	K562	blood:	n/a	n/a
47	ARID3A	chr22:21096149-21096341	HepG2	liver:	n/a	n/a
48	ARID3A	chr22:21355932-21357355	K562	blood:	n/a	n/a
49	ARID3A	chr22:21198964-21199225	HepG2	liver:	n/a	n/a
50	ARID3A	chr22:21358157-21358159	HepG2	liver:	n/a	n/a

(count:16989 , 50 per page) page: 1 2 3 4 5 6 7 ... 340

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:20850168-20850218	NB4	blood:	n/a
2	chr22:21386914-21386964	RPTEC	kidney:	n/a
3	chr22:21319668-21319718	SAEC	small airway:	n/a
4	chr22:21356776-21356826	GM12878	blood:	n/a
5	chr22:21025258-21025308	NB4	blood:	n/a
6	chr22:20937702-20937752	Hela-S3	cervix:	n/a
7	chr22:20748445-20748495	AG09309	skin:	n/a
8	chr22:21400184-21400234	PrEC	prostate:	n/a
9	chr22:21057110-21057160	SK-N-MC	brain:	n/a
10	chr22:20791024-20791074	AG09319	gingival:	n/a
11	chr22:21216897-21216947	BE2_C	brain:	n/a
12	chr22:21368765-21368815	AG10803	skin:	n/a
13	chr22:21356040-21356090	SK-N-SH	brain:	n/a
14	chr22:21090121-21090171	A549	lung:	n/a
15	chr22:21400167-21400217	HRE	kidney:	n/a
16	chr22:21271392-21271442	NT2-D1	testis:	n/a
17	chr22:21398582-21398632	H1-hESC	embryonic stem cell:	embryo
18	chr22:21133973-21134023	PANC-1	pancreas:	n/a
19	chr22:21311670-21311720	T-47D	breast:	n/a
20	chr22:21385818-21385868	H1-hESC	embryonic stem cell:	embryo
21	chr22:21025258-21025308	HCM	heart:	n/a
22	chr22:20849950-20850000	PANC-1	pancreas:	n/a
23	chr22:21368765-21368815	HepG2	liver:	n/a
24	chr22:21320349-21320399	ProgFib	skin:	n/a
25	chr22:21357269-21357319	GM12892	blood:	n/a
26	chr22:21356466-21356516	GM06990	blood:	n/a
27	chr22:21025571-21025621	U87	brain:	n/a
28	chr22:20748341-20748391	GM12891	blood:	n/a
29	chr22:21400158-21400208	Jurkat	blood:	n/a
30	chr22:21193857-21193907	NHDF-neo	bronchial:	n/a
31	chr22:21321253-21321303	HCF	heart:	n/a
32	chr22:20850168-20850218	NB4	blood:	n/a
33	chr22:21386914-21386964	RPTEC	kidney:	n/a
34	chr22:21319668-21319718	SAEC	small airway:	n/a
35	chr22:21356776-21356826	GM12878	blood:	n/a
36	chr22:21025258-21025308	NB4	blood:	n/a
37	chr22:20937702-20937752	Hela-S3	cervix:	n/a
38	chr22:20748445-20748495	AG09309	skin:	n/a
39	chr22:21400184-21400234	PrEC	prostate:	n/a
40	chr22:21057110-21057160	SK-N-MC	brain:	n/a
41	chr22:20791024-20791074	AG09319	gingival:	n/a
42	chr22:21216897-21216947	BE2_C	brain:	n/a
43	chr22:21368765-21368815	AG10803	skin:	n/a
44	chr22:21356040-21356090	SK-N-SH	brain:	n/a
45	chr22:21090121-21090171	A549	lung:	n/a
46	chr22:21400167-21400217	HRE	kidney:	n/a
47	chr22:21271392-21271442	NT2-D1	testis:	n/a
48	chr22:21398582-21398632	H1-hESC	embryonic stem cell:	embryo
49	chr22:21133973-21134023	PANC-1	pancreas:	n/a
50	chr22:21311670-21311720	T-47D	breast:	n/a

(count:1171 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Distal block	Cell Line	Cell type
1	chr22:20747850..20751985-chr22:20809084..20812075,7	K562	blood:
2	chr22:20810693..20811381-chr22:20827578..20828217,2	K562	blood:
3	chr22:21175496..21177121-chr22:21190534..21192297,2	K562	blood:
4	chr22:20856300..20858613-chr22:20864903..20866529,2	MCF-7	breast:
5	chr22:21155686..21159712-chr22:21211175..21215732,5	K562	blood:
6	chr16:2014781..2015412-chr22:21355563..21356475,2	Hela-S3	cervix:
7	chr22:20858528..20860065-chr22:20861834..20864746,2	MCF-7	breast:
8	chr22:20943979..20945593-chr22:20959187..20961022,2	K562	blood:
9	chr22:21240550..21244327-chr22:21271211..21273065,3	MCF-7	breast:
10	chr22:21368521..21370497-chr22:21370979..21373529,2	MCF-7	breast:
11	chr22:21280717..21282299-chr22:21284064..21287022,2	MCF-7	breast:
12	chr22:20861899..20863684-chr22:21210848..21213659,3	K562	blood:
13	chr22:21355852..21356503-chr6:26045280..26046103,2	Hela-S3	cervix:
14	chr22:20861899..20863684-chr22:21210848..21213659,3	K562	blood:
15	chr22:21129165..21132014-chr22:21243301..21246224,2	MCF-7	breast:
16	chr22:21160543..21163484-chr22:21218969..21221521,2	K562	blood:
17	chr22:20821138..20825144-chr22:20826381..20829105,4	K562	blood:
18	chr22:20823921..20826013-chr22:20833938..20835787,2	K562	blood:
19	chr22:20849422..20853249-chr22:20886010..20889153,3	K562	blood:
20	chr22:21009598..21012263-chr22:21079612..21081999,2	K562	blood:
21	chr22:21419927..21422503-chr22:21429993..21432697,2	K562	blood:
22	chr12:53342692..53344306-chr22:20859968..20861837,2	MCF-7	breast:
23	chr22:21300477..21302568-chr22:21302893..21304560,2	MCF-7	breast:
24	chr22:21094680..21096970-chr22:21122059..21124487,2	K562	blood:
25	chr22:20929485..20931010-chr22:20968363..20970384,2	K562	blood:
26	chr22:21182759..21185449-chr22:21190194..21192000,2	K562	blood:
27	chr22:21118343..21120521-chr22:21138567..21141708,3	K562	blood:
28	chr22:20777592..20779783-chr22:20783433..20786205,3	MCF-7	breast:
29	chr22:20991010..20993533-chr22:21131289..21133176,2	K562	blood:
30	chr22:21270141..21275686-chr22:21333109..21337968,12	K562	blood:
31	chr22:20924130..20925719-chr22:20941055..20944040,2	K562	blood:
32	chr22:21295113..21297104-chr22:21308317..21310000,2	K562	blood:
33	chr22:20959890..20963201-chr22:20965150..20968653,5	MCF-7	breast:
34	chr22:21208804..21215170-chr22:21270042..21275936,11	MCF-7	breast:
35	chr22:21310939..21314278-chr22:21333696..21337784,4	MCF-7	breast:
36	chr22:21270994..21274235-chr22:21332430..21336305,7	K562	blood:
37	chr22:20796606..20798996-chr22:20817274..20819726,3	K562	blood:
38	chr22:20772465..20773004-chr22:21051541..21052411,2	MCF-7	breast:
39	chr22:21354919..21360607-chr22:21367214..21371527,6	MCF-7	breast:
40	chr22:20865506..20869048-chr22:20885403..20887394,3	K562	blood:
41	chr22:20882988..20885165-chr22:20886083..20887704,3	K562	blood:
42	chr22:20772158..20773986-chr22:20850314..20851420,13	K562	blood:
43	chr22:20783526..20786836-chr22:20848696..20851807,5	MCF-7	breast:
44	chr22:20933414..20936648-chr22:20939371..20942706,3	MCF-7	breast:
45	chr22:21271619..21273395-chr22:21292478..21294248,2	MCF-7	breast:
46	chr22:20933859..20935752-chr22:20939250..20941853,2	MCF-7	breast:
47	chr22:21286989..21289618-chr22:21294245..21298077,4	K562	blood:
48	chr22:20881315..20882924-chr22:20885012..20887270,3	K562	blood:
49	chr22:21141159..21142914-chr22:21354020..21356438,3	K562	blood:
50	chr22:21355150..21357096-chr22:21369012..21370765,2	MCF-7	breast:

(count:93 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LZTR1-2	chr22:21319556-21319763	NONHSAT083608
2	lnc-P2RX6-1	chr22:21401645-21401787	XLOC_014162
3	lnc-PI4KA-2	chr22:21245188-21245502	ENSG00000272600.1
4	lnc-CRKL-1	chr22:21309449-21309714	NONHSAT083603
5	lnc-P2RX6-1	chr22:21416013-21416630	XLOC_014162
6	lnc-P2RX6-1	chr22:21410800-21411489	XLOC_014162
7	lnc-POM121L4P-1	chr22:21058476-21058516	ENSG00000226287
8	lnc-LZTR1-1	chr22:21357207-21357561	ENSG00000230513.1
9	lnc-KLHL22-1	chr22:20876357-20876494	ENSG00000236003.1
10	lnc-ZNF74-1	chr22:20853528-20853652	XLOC_014159
11	lnc-CRKL-2	chr22:21269543-21270094	NONHSAT083600
12	lnc-ZNF74-1	chr22:20853528-20853638	XLOC_014159
13	lnc-POM121L4P-1	chr22:21058476-21058510	NONHSAT083590
14	lnc-P2RX6-1	chr22:21411225-21411489	XLOC_014162
15	lnc-MED15-1	chr22:20978098-20978446	NONHSAT083573
16	lnc-P2RX6-1	chr22:21410819-21411489	NONHSAT147203
17	lnc-SCARF2-4	chr22:20836224-20836497	NONHSAT083542
18	lnc-POM121L4P-1	chr22:21057697-21057812	NONHSAT083589
19	lnc-AIFM3-1	chr22:21318679-21318929	NONHSAT083604
20	lnc-POM121L4P-1	chr22:21057921-21057980	NONHSAT083589
21	lnc-LZTR1-2	chr22:21319465-21319495	NONHSAT083607
22	lnc-ZNF74-1	chr22:20852954-20853121	XLOC_014159
23	lnc-AC007308.1-1	chr22:21081518-21081581	NONHSAT083592
24	lnc-ZNF74-1	chr22:20853528-20853638	XLOC_014159
25	lnc-ZNF74-1	chr22:20850204-20850974	XLOC_014159
26	lnc-AIFM3-1	chr22:21311691-21311774	XLOC_014161
27	lnc-ZNF74-1	chr22:20855028-20855122	XLOC_014159
28	lnc-ZNF74-1	chr22:20853528-20853786	XLOC_014159
29	lnc-AIFM3-1	chr22:21318679-21318877	XLOC_014161
30	lnc-POM121L4P-1	chr22:21055220-21055955	ENSG00000226287
31	lnc-POM121L4P-1	chr22:21057993-21058039	NONHSAT083590
32	lnc-ZNF74-1	chr22:20852954-20853078	XLOC_014159
33	lnc-POM121L4P-2	chr22:21077335-21078054	ENSG00000234252
34	lnc-ZNF74-1	chr22:20851571-20851853	XLOC_014159
35	lnc-SCARF2-2	chr22:20807930-20808130	l_2248_chr22:20802944-20808130_testes
36	lnc-POM121L4P-1	chr22:21058256-21058330	NONHSAT083590
37	lnc-P2RX6-1	chr22:21416013-21416553	XLOC_014162
38	lnc-POM121L4P-1	chr22:21058256-21058471	NONHSAT083589
39	lnc-MED15-1	chr22:20978985-20979159	NONHSAT083573
40	lnc-AIFM3-1	chr22:21311377-21311774	NONHSAT083604
41	lnc-ZNF74-1	chr22:20853528-20853656	XLOC_014159
42	lnc-KLHL22-1	chr22:20877018-20877313	ENSG00000236003.1
43	lnc-AIFM3-1	chr22:21318679-21318968	NR_110537
44	lnc-P2RX6-1	chr22:21414662-21414686	NONHSAT147203
45	lnc-KLHL22-1	chr22:20877940-20878157	ENSG00000236003.1
46	lnc-ZNF74-1	chr22:20850199-20850323	XLOC_014159
47	lnc-PI4KA-2	chr22:21243494-21243551	ENSG00000272600.1
48	lnc-AIFM3-1	chr22:21311380-21311774	ENSG00000237476
49	lnc-CRKL-2	chr22:21265337-21265794	NONHSAT083600
50	lnc-P2RX6-1	chr22:21408238-21408286	XLOC_014162

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	CRKL	hsa-miR-16-5p	chr22:21305526-21305532
2	CRKL	hsa-miR-16-5p	chr22:21304140-21304160
3	CRKL	hsa-miR-29a-3p	chr22:21307830-21307851
4	SNAP29	hsa-miR-155-5p	chr22:21244020-21244043
5	AIFM3	hsa-miR-210-3p	chr22:21335617-21335638
6	LZTR1	hsa-miR-15b-5p	chr22:21348848-21348869
7	CRKL	hsa-miR-16-5p	chr22:21304153-21304159

Variant related genes	Relation type
TUBA3GP	TF binding region
ENSG00000201916	TF binding region
ENSG00000269103	TF binding region
SERPIND1	TF binding region
RN7SL812P	TF binding region
ENSG00000272600	TF binding region
SNAP29	TF binding region
ENSG00000215493	TF binding region
P2RX6	TF binding region
KRT18P5	TF binding region
SLC7A4	TF binding region
TMEM191A	TF binding region
ENSG00000250261	TF binding region
ENSG00000265300	TF binding region
THAP7-AS1	TF binding region
MED15	TF binding region
CRKL	TF binding region
SLC9A3P2	TF binding region
SCARF2	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
THAP7	TF binding region
AIFM3	TF binding region
ENSG00000236003	TF binding region
KLHL22	TF binding region
USP41	TF binding region
RNU6-225P	TF binding region
ENSG00000187905	TF binding region
LZTR1	TF binding region
ZNF74	TF binding region
RN7SL389P	TF binding region
ENSG00000237476	TF binding region
KLHL22-IT1	TF binding region
ENSG00000234252	TF binding region
ENSG00000264718	TF binding region
ENSG00000272829	TF binding region
TUBA3GP	CpG island
ENSG00000201916	CpG island
ENSG00000269103	CpG island
SERPIND1	CpG island
RN7SL812P	CpG island
ENSG00000272600	CpG island
SNAP29	CpG island
ENSG00000215493	CpG island
P2RX6	CpG island
KRT18P5	CpG island
SLC7A4	CpG island
TMEM191A	CpG island
ENSG00000250261	CpG island
ENSG00000265300	CpG island
THAP7-AS1	CpG island
MED15	CpG island
CRKL	CpG island
SLC9A3P2	CpG island
SCARF2	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
THAP7	CpG island
AIFM3	CpG island
ENSG00000236003	CpG island
KLHL22	CpG island
USP41	CpG island
RNU6-225P	CpG island
ENSG00000187905	CpG island
LZTR1	CpG island
ZNF74	CpG island
RN7SL389P	CpG island
ENSG00000237476	CpG island
KLHL22-IT1	CpG island
ENSG00000234252	CpG island
ENSG00000264718	CpG island
ENSG00000272829	CpG island
ENSG00000162604	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000255198	chromatin interactions
ENSG00000273342	chromatin interactions
ENSG00000196562	chromatin interactions
ENSG00000152254	chromatin interactions
ENSG00000099917	chromatin interactions
ENSG00000124942	chromatin interactions
ENSG00000236499	chromatin interactions
ENSG00000183773	chromatin interactions
ENSG00000099901	chromatin interactions
ENSG00000136942	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000235884	chromatin interactions
ENSG00000244486	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000182704	chromatin interactions
ENSG00000249680	chromatin interactions
ENSG00000184436	chromatin interactions
ENSG00000099910	chromatin interactions
ENSG00000099940	chromatin interactions
ENSG00000207343	chromatin interactions
ENSG00000255156	chromatin interactions
ENSG00000198518	chromatin interactions
ENSG00000250261	chromatin interactions
ENSG00000266366	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000206145	chromatin interactions
ENSG00000226287	chromatin interactions
ENSG00000238125	chromatin interactions
ENSG00000237476	chromatin interactions
ENSG00000099949	chromatin interactions
ENSG00000183155	chromatin interactions
ENSG00000099937	chromatin interactions
ENSG00000236003	chromatin interactions
ENSG00000159445	chromatin interactions
ENSG00000151414	chromatin interactions
ENSG00000272829	chromatin interactions
ENSG00000183597	chromatin interactions
ENSG00000161149	chromatin interactions
ENSG00000137818	chromatin interactions
ENSG00000185252	chromatin interactions
ENSG00000201916	chromatin interactions
ENSG00000099957	chromatin interactions
ENSG00000099875	chromatin interactions
ENSG00000242876	chromatin interactions
ENSG00000234252	chromatin interactions
ENSG00000229107	chromatin interactions
ENSG00000099942	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000265300	chromatin interactions
ENSG00000111057	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000099960	chromatin interactions
ENSG00000223553	chromatin interactions
ENSG00000269103	chromatin interactions
ENSG00000124529	chromatin interactions
ENSG00000140988	chromatin interactions
ENSG00000161133	chromatin interactions
ENSG00000255384	chromatin interactions
ENSG00000099899	chromatin interactions
ENSG00000207575	chromatin interactions
ENSG00000236670	chromatin interactions
ENSG00000207751	chromatin interactions
ENSG00000187905	chromatin interactions
ENSG00000119231	chromatin interactions
ENSG00000169668	chromatin interactions
ENSG00000230513	chromatin interactions
ENSG00000272600	chromatin interactions
ENSG00000264718	chromatin interactions
ENSG00000161132	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000179632	chromatin interactions
ENSG00000196532	chromatin interactions
ENSG00000249923	chromatin interactions
ENSG00000241973	chromatin interactions
ENSG00000273343	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000235062	chromatin interactions
ENSG00000215493	chromatin interactions
ENSG00000128185	chromatin interactions
ENSG00000116266	chromatin interactions
ENSG00000141101	chromatin interactions
ENSG00000273139	chromatin interactions
RNF44	miRNA target sites
ARHGEF3	miRNA target sites
PPP2R1A	miRNA target sites
DNMT1	miRNA target sites
ARHGEF2	miRNA target sites
ARHGEF18	miRNA target sites
NGRN	miRNA target sites
DOCK5	miRNA target sites
RNF6	miRNA target sites
H2AFX	miRNA target sites
DNM2	miRNA target sites

Extended variants
information (count: 31773 )
Associated
traits (count: 242 )

Variant overlapped rSNPs/rCNVs (count:31773 , 50 per page) page: 1 2 3 4 5 6 7 ... 636

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368340315	chr22:20739209-20739210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571861693	chr22:20739212-20739213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539579540	chr22:20739224-20739225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562886652	chr22:20739246-20739247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531650150	chr22:20739301-20739302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs74556925	chr22:20739335-20739336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532308776	chr22:20739348-20739349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186150200	chr22:20739358-20739359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562583906	chr22:20739369-20739370	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7292186	chr22:20739375-20739376	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569975975	chr22:20739405-20739406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs147549438	chr22:20739422-20739423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548335975	chr22:20739432-20739433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568049841	chr22:20739458-20739459	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373262547	chr22:20739459-20739460	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs74786080	chr22:20739492-20739493	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112578295	chr22:20739500-20739501	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs547439609	chr22:20739542-20739543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs571075756	chr22:20739551-20739552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs7287029	chr22:20739626-20739627	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs362119	chr22:20739642-20739643	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs576603384	chr22:20739687-20739688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535532219	chr22:20739801-20739802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs73382231	chr22:20739809-20739810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs56763610	chr22:20739885-20739886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572310041	chr22:20739895-20739896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546303993	chr22:20739942-20739943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540997937	chr22:20739958-20739959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4822505	chr22:20740037-20740038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191052038	chr22:20740054-20740055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183691212	chr22:20740099-20740100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116467852	chr22:20740215-20740216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140542078	chr22:20740282-20740283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149713650	chr22:20740285-20740286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561741627	chr22:20740325-20740326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527382706	chr22:20740422-20740423	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189132109	chr22:20740440-20740441	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570391134	chr22:20740455-20740456	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145786326	chr22:20740480-20740481	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550234875	chr22:20740591-20740592	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs6004190	chr22:20740651-20740652	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs5996720	chr22:20740688-20740689	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373000766	chr22:20740711-20740712	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183148314	chr22:20740714-20740715	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs187122680	chr22:20740736-20740737	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs191936971	chr22:20740739-20740740	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs558130954	chr22:20740742-20740743	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs148532073	chr22:20740765-20740766	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs7285976	chr22:20740778-20740779	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs184895935	chr22:20740804-20740805	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:242)

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
cardiac septal defect	19239688	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
Ependymoma	20639864	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
Schizophrenia	17989066	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
T-cell lymphomas	22341440	CNVD
Acute lymphoblastic leukemia	20699438	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Multiple myeloma	17550852	CNVD
early-passage human iPS cells	21368824	CNVD
lymphocytic leukemia	21291569	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Melanoma	20877625	CNVD
Cognitive impairment	21505072	CNVD

Chromatin state (count:26680 , 50 per page) page: 1 2 3 4 5 6 7 ... 534

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20721600-20743400	Weak transcription	Right Atrium	heart
2	chr22:20740200-20741200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr22:20740400-20741000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr22:20740400-20741200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr22:20741200-20747600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr22:20743400-20744000	ZNF genes & repeats	Right Atrium	heart
7	chr22:20744000-20747800	Weak transcription	Right Atrium	heart
8	chr22:20744800-20747000	Weak transcription	Spleen	Spleen
9	chr22:20747000-20747800	Enhancers	Spleen	Spleen
10	chr22:20747200-20747400	Enhancers	Dnd41	blood
11	chr22:20747200-20747800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:20747400-20747600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:20747400-20747600	Enhancers	Primary hematopoietic stem cells	blood
14	chr22:20747400-20747600	Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr22:20747400-20747600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr22:20747400-20747600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr22:20747400-20747600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr22:20747400-20747600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:20747400-20747600	Enhancers	Brain Cingulate Gyrus	brain
20	chr22:20747400-20747600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr22:20747400-20747600	Enhancers	Colon Smooth Muscle	Colon
22	chr22:20747400-20747600	Enhancers	Duodenum Mucosa	Duodenum
23	chr22:20747400-20747600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr22:20747400-20747600	Enhancers	K562	blood
25	chr22:20747400-20747800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr22:20747400-20747800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:20747400-20747800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr22:20747400-20747800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr22:20747400-20747800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:20747400-20747800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:20747400-20747800	Enhancers	Fetal Brain Female	brain
32	chr22:20747400-20747800	Enhancers	Fetal Muscle Trunk	muscle
33	chr22:20747400-20747800	Enhancers	Pancreas	Pancrea
34	chr22:20747400-20747800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr22:20747400-20748000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:20747400-20748200	Flanking Active TSS	Dnd41	blood
37	chr22:20747600-20747800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr22:20747600-20747800	Enhancers	H9 Cell Line	embryonic stem cell
39	chr22:20747600-20747800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr22:20747600-20747800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr22:20747600-20747800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:20747600-20747800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr22:20747600-20747800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr22:20747600-20747800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr22:20747600-20747800	Enhancers	Primary B cells from peripheral blood	blood
46	chr22:20747600-20747800	Enhancers	Primary T cells from cord blood	blood
47	chr22:20747600-20747800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr22:20747600-20747800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr22:20747600-20747800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr22:20747600-20747800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links