Variant report

Variant	nsv1023706
Chromosome Location	chr9:6619819-6745551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3402)
CpG islands
(count:1527)
Chromatin interactive
region (count:147)
LncRNA
region (count:57)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3402 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:6680666-6681844	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:6641775-6641951	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:6714320-6714869	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:6664541-6665413	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:6673778-6673994	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:6702813-6703015	K562	blood:	n/a	n/a
7	ARID3A	chr9:6739329-6739619	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:6683465-6683727	K562	blood:	n/a	n/a
9	ARID3A	chr9:6645695-6646211	HepG2	liver:	n/a	n/a
10	ARID3A	chr9:6716174-6716454	HepG2	liver:	n/a	n/a
11	ARID3A	chr9:6667709-6667966	K562	blood:	n/a	n/a
12	ARID3A	chr9:6667619-6667991	HepG2	liver:	n/a	n/a
13	ATF1	chr9:6681148-6681907	K562	blood:	n/a	n/a
14	ATF1	chr9:6683332-6683728	K562	blood:	n/a	n/a
15	ATF2	chr9:6703839-6704309	GM12878	blood:	n/a	n/a
16	ATF2	chr9:6673244-6673922	GM12878	blood:	n/a	n/a
17	ATF2	chr9:6630782-6631440	GM12878	blood:	n/a	n/a
18	ATF2	chr9:6680771-6682208	GM12878	blood:	n/a	n/a
19	ATF2	chr9:6703375-6704596	GM12878	blood:	n/a	n/a
20	ATF2	chr9:6620437-6621001	GM12878	blood:	n/a	n/a
21	ATF2	chr9:6683093-6683781	GM12878	blood:	n/a	n/a
22	ATF2	chr9:6654912-6655463	GM12878	blood:	n/a	n/a
23	ATF2	chr9:6632332-6633189	GM12878	blood:	n/a	n/a
24	ATF2	chr9:6680648-6682329	GM12878	blood:	n/a	n/a
25	ATF2	chr9:6715890-6716329	GM12878	blood:	n/a	chr9:6716129-6716140
26	ATF2	chr9:6703874-6704656	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr9:6680902-6681966	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr9:6715844-6716527	GM12878	blood:	n/a	chr9:6716129-6716140
29	ATF2	chr9:6689798-6690646	GM12878	blood:	n/a	n/a
30	ATF2	chr9:6654995-6655416	GM12878	blood:	n/a	n/a
31	ATF2	chr9:6703987-6704605	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF2	chr9:6683034-6683764	GM12878	blood:	n/a	n/a
33	ATF2	chr9:6681171-6681904	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF2	chr9:6722727-6723186	GM12878	blood:	n/a	n/a
35	ATF2	chr9:6722741-6723673	GM12878	blood:	n/a	n/a
36	ATF3	chr9:6703940-6704551	HepG2	liver:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
37	ATF3	chr9:6704072-6704352	GM12878	blood:	n/a	chr9:6704101-6704111
38	ATF3	chr9:6680937-6681651	GM12878	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
39	ATF3	chr9:6704052-6704432	HepG2	liver:	n/a	chr9:6704101-6704111
40	ATF3	chr9:6681031-6681807	A549	lung:	n/a	chr9:6681281-6681290 chr9:6681270-6681290 chr9:6681721-6681741
41	ATF3	chr9:6681132-6681923	A549	lung:	n/a	chr9:6681281-6681290 chr9:6681270-6681290 chr9:6681721-6681741
42	ATF3	chr9:6703900-6704493	H1-hESC	embryonic stem cell:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
43	ATF3	chr9:6681099-6681405	GM12878	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
44	ATF3	chr9:6681128-6681460	HepG2	liver:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
45	ATF3	chr9:6664294-6664873	A549	lung:	n/a	n/a
46	ATF3	chr9:6664488-6664934	A549	lung:	n/a	n/a
47	ATF3	chr9:6704051-6704512	A549	lung:	n/a	chr9:6704101-6704111
48	ATF3	chr9:6703937-6704598	GM12878	blood:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
49	ATF3	chr9:6703972-6704567	H1-hESC	embryonic stem cell:	n/a	chr9:6704101-6704111
50	ATF3	chr9:6703946-6704478	A549	lung:	n/a	chr9:6703954-6703967 chr9:6704101-6704111

(count:1527 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:6704178-6704228	ECC-1	luminal epithelium:	n/a
2	chr9:6716417-6716467	HCF	heart:	n/a
3	chr9:6704178-6704228	ECC-1	luminal epithelium:	n/a
4	chr9:6716417-6716467	HCF	heart:	n/a
5	chr9:6644369-6644419	CMK	blood:	n/a
6	chr9:6681608-6681658	AoSMC	blood vessel:	n/a
7	chr9:6703949-6703999	HL-60	blood:	n/a
8	chr9:6645468-6645518	HIPEpiC	eye:	n/a
9	chr9:6703949-6703999	HRE	kidney:	n/a
10	chr9:6680932-6680982	SKMC	muscle:	n/a
11	chr9:6731623-6731673	NT2-D1	testis:	n/a
12	chr9:6703949-6703999	HEEpiC	esophagus:	n/a
13	chr9:6680800-6680850	HCF	heart:	n/a
14	chr9:6680800-6680850	HPAEpiC	pulmonary alveolar:	n/a
15	chr9:6644369-6644419	HMEC	breast:	n/a
16	chr9:6680923-6680973	HAEpiC	amniotic membrane:	n/a
17	chr9:6681608-6681658	Hepatocyte	liver:	n/a
18	chr9:6716480-6716530	Hepatocyte	liver:	n/a
19	chr9:6704574-6704624	HUVEC	blood vessel:	n/a
20	chr9:6715032-6715082	RPTEC	kidney:	n/a
21	chr9:6645686-6645736	HRE	kidney:	n/a
22	chr9:6683274-6683324	PFSK-1	brain:	n/a
23	chr9:6645686-6645736	GM19239	blood:	n/a
24	chr9:6731623-6731673	BE2_C	brain:	n/a
25	chr9:6707115-6707165	SKMC	muscle:	n/a
26	chr9:6731623-6731673	U87	brain:	n/a
27	chr9:6644603-6644653	K562	blood:	n/a
28	chr9:6716417-6716467	HL-60	blood:	n/a
29	chr9:6703605-6703655	SK-N-SH_RA	brain:	n/a
30	chr9:6704574-6704624	HRCEpiC	kidney:	n/a
31	chr9:6644603-6644653	AG04449	skin:	fetal
32	chr9:6681559-6681609	HRPEpiC	eye:	n/a
33	chr9:6681559-6681609	NB4	blood:	n/a
34	chr9:6731623-6731673	SK-N-MC	brain:	n/a
35	chr9:6703605-6703655	ovcar-3	ovarian:	n/a
36	chr9:6731623-6731673	SKMC	muscle:	n/a
37	chr9:6715032-6715082	HUVEC	blood vessel:	n/a
38	chr9:6706149-6706199	HCPEpiC	choroid plexus:	n/a
39	chr9:6700000-6700050	CMK	blood:	n/a
40	chr9:6706149-6706199	AG10803	skin:	n/a
41	chr9:6683274-6683324	T-47D	breast:	n/a
42	chr9:6646386-6646436	A549	lung:	n/a
43	chr9:6680800-6680850	PrEC	prostate:	n/a
44	chr9:6681415-6681465	HAEpiC	amniotic membrane:	n/a
45	chr9:6645468-6645518	SK-N-SH_RA	brain:	n/a
46	chr9:6731623-6731673	NHDF-neo	bronchial:	n/a
47	chr9:6715032-6715082	SAEC	small airway:	n/a
48	chr9:6645468-6645518	SAEC	small airway:	n/a
49	chr9:6680800-6680850	HRE	kidney:	n/a
50	chr9:6680800-6680850	NHDF-neo	bronchial:	n/a

(count:147 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:6714309..6715981-chr9:6723655..6726584,2	MCF-7	breast:
2	chr9:6714309..6715981-chr9:6723655..6726584,2	MCF-7	breast:
3	chr9:6698340..6700152-chr9:6701946..6704339,2	MCF-7	breast:
4	chr9:6656639..6659482-chr9:6662780..6664665,3	MCF-7	breast:
5	chr9:6699861..6702298-chr9:6702749..6705225,2	MCF-7	breast:
6	chr9:6674752..6678702-chr9:6679022..6682873,7	K562	blood:
7	chr9:6681473..6683386-chr9:6714578..6718490,5	MCF-7	breast:
8	chr19:42363580..42364427-chr9:6681324..6682242,2	NB4	blood:
9	chr9:6684635..6686737-chr9:6757059..6759167,2	MCF-7	breast:
10	chr9:6680134..6683245-chr9:6684622..6687341,3	K562	blood:
11	chr17:19551151..19551842-chr9:6681285..6682068,2	Hela-S3	cervix:
12	chr9:6690536..6693350-chr9:6698647..6700189,2	MCF-7	breast:
13	chr9:6680439..6681279-chr9:136024589..136025226,2	NB4	blood:
14	chr9:6654607..6656764-chr9:6663214..6664911,2	K562	blood:
15	chr9:6662765..6664429-chr9:6666367..6668579,2	MCF-7	breast:
16	chr9:6702847..6705575-chr9:6714326..6717882,7	MCF-7	breast:
17	chr7:148892469..148893164-chr9:6680524..6681026,2	NB4	blood:
18	chr9:6690617..6692723-chr9:6701607..6704265,2	MCF-7	breast:
19	chr9:6722888..6726785-chr9:6754807..6757177,3	K562	blood:
20	chr9:6533272..6535800-chr9:6681069..6683891,2	K562	blood:
21	chr9:6674523..6677794-chr9:6679022..6682789,5	K562	blood:
22	chr14:51410899..51411829-chr9:6715512..6716484,2	HCT-116	colon:
23	chr9:6715258..6717463-chr9:6718537..6720528,2	MCF-7	breast:
24	chr9:6656639..6659482-chr9:6662780..6664665,3	MCF-7	breast:
25	chr9:6698340..6700152-chr9:6701946..6704339,2	MCF-7	breast:
26	chr9:6679611..6682734-chr9:6683304..6686457,4	MCF-7	breast:
27	chr19:47734079..47734823-chr9:6681251..6681785,2	NB4	blood:
28	chr11:6255893..6256668-chr9:6681534..6682304,2	HCT-116	colon:
29	chr9:6590828..6592705-chr9:6679350..6681430,2	MCF-7	breast:
30	chr9:6663029..6667664-chr9:6679639..6683357,9	MCF-7	breast:
31	chr9:6685820..6688107-chr9:6699923..6703311,3	MCF-7	breast:
32	chr9:6412059..6414733-chr9:6680071..6683116,4	K562	blood:
33	chr9:6680896..6681724-chr9:86535475..86536351,2	HCT-116	colon:
34	chr9:6685128..6687481-chr9:6715768..6718010,2	MCF-7	breast:
35	chr20:3747959..3748789-chr9:6681040..6681979,2	NB4	blood:
36	chr12:91346285..91346785-chr9:6680944..6681459,2	NB4	blood:
37	chr9:6662765..6664429-chr9:6666367..6668579,2	MCF-7	breast:
38	chr9:6411239..6413842-chr9:6680405..6682367,2	MCF-7	breast:
39	chr9:6702551..6705246-chr9:6715022..6717677,6	MCF-7	breast:
40	chr11:111895384..111895991-chr9:6681315..6682181,2	Hela-S3	cervix:
41	chr5:122758681..122759560-chr9:6680956..6681952,3	NB4	blood:
42	chr9:6639721..6642651-chr9:6680043..6682884,2	MCF-7	breast:
43	chr1:17230975..17231846-chr9:6681106..6681762,2	NB4	blood:
44	chr9:6640659..6642824-chr9:6643049..6645706,2	MCF-7	breast:
45	chr9:6702551..6705246-chr9:6715022..6717677,6	MCF-7	breast:
46	chr2:32389334..32390859-chr9:6713099..6716031,2	MCF-7	breast:
47	chr9:6716286..6718322-chr9:6724305..6726614,2	MCF-7	breast:
48	chr9:6683289..6684884-chr9:6702645..6704262,2	MCF-7	breast:
49	chr9:6671740..6675372-chr9:6679558..6683814,6	MCF-7	breast:
50	chr9:6667615..6669315-chr9:6679006..6681464,2	K562	blood:

(count:57 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-1	chr9:6726946-6727438	ENSG00000225489.1
2	lnc-KDM4C-5	chr9:6670425-6670635	ENSG00000236924.1
3	lnc-KDM4C-1	chr9:6716503-6716619	NONHSAT130156
4	lnc-KDM4C-1	chr9:6719071-6719154	ENSG00000225489.1
5	lnc-KDM4C-1	chr9:6719071-6719370	ENSG00000225489.1
6	lnc-KDM4C-1	chr9:6708810-6708981	NONHSAT130155
7	lnc-KDM4C-14	chr9:6661783-6661845	NONHSAT130146
8	lnc-KDM4C-1	chr9:6716548-6716616	ENSG00000225489.1
9	lnc-KDM4C-1	chr9:6718810-6718981	ENSG00000225489.1
10	lnc-KDM4C-5	chr9:6645956-6646085	ENSG00000236924.1
11	lnc-KDM4C-5	chr9:6669544-6669728	ENSG00000236924.1
12	lnc-KDM4C-1	chr9:6716183-6716616	NONHSAT130157
13	lnc-KDM4C-13	chr9:6663156-6663366	NONHSAT130148
14	lnc-KDM4C-2	chr9:6704179-6704343	XLOC_007275
15	lnc-KDM4C-1	chr9:6726946-6727438	ENSG00000225489.2
16	lnc-KDM4C-14	chr9:6661291-6661345	NONHSAT130146
17	lnc-KDM4C-1	chr9:6720863-6720997	ENSG00000225489.2
18	lnc-KDM4C-1	chr9:6717873-6719234	NONHSAT130157
19	lnc-KDM4C-1	chr9:6726503-6726619	ENSG00000225489.1
20	lnc-KDM4C-14	chr9:6660407-6661044	NONHSAT130146
21	lnc-KDM4C-1	chr9:6716946-6717438	NONHSAT130156
22	lnc-KDM4C-2	chr9:6704471-6704653	XLOC_007275
23	lnc-KDM4C-2	chr9:6707542-6707776	NONHSAT130153
24	lnc-KDM4C-2	chr9:6704453-6704977	NONHSAT130152
25	lnc-KDM4C-2	chr9:6704406-6704653	NONHSAT130153
26	lnc-KDM4C-12	chr9:6675284-6675614	NONHSAT130149
27	lnc-KDM4C-11	chr9:6697542-6697780	NONHSAT130150
28	lnc-KDM4C-1	chr9:6726503-6726619	ENSG00000225489.2
29	lnc-KDM4C-1	chr9:6716196-6716315	NONHSAT130158
30	lnc-KDM4C-1	chr9:6709071-6709154	NONHSAT130154
31	lnc-KDM4C-11	chr9:6694471-6694653	NONHSAT130150
32	lnc-SNRPEP2-1	chr9:6734598-6735076	NONHSAT130163
33	lnc-KDM4C-1	chr9:6710863-6710997	NONHSAT130154
34	lnc-KDM4C-2	chr9:6707542-6707780	XLOC_007275
35	lnc-KDM4C-1	chr9:6719071-6719154	ENSG00000225489.2
36	lnc-KDM4C-5	chr9:6645882-6646085	NONHSAT130145
37	lnc-KDM4C-1	chr9:6720863-6720997	ENSG00000225489.1
38	lnc-KDM4C-2	chr9:6704453-6704653	XLOC_007275
39	lnc-KDM4C-1	chr9:6719068-6719154	ENSG00000225489.1
40	lnc-KDM4C-1	chr9:6706548-6706616	NONHSAT130154
41	lnc-KDM4C-1	chr9:6717873-6718149	NONHSAT130158
42	lnc-KDM4C-5	chr9:6669544-6669728	NONHSAT130145
43	lnc-KDM4C-1	chr9:6709068-6709154	NONHSAT130156
44	lnc-KDM4C-1	chr9:6720863-6720997	ENSG00000225489.1
45	lnc-KDM4C-1	chr9:6718965-6718981	ENSG00000225489.2
46	lnc-KDM4C-1	chr9:6717873-6718981	ENSG00000225489.1
47	lnc-KDM4C-13	chr9:6662424-6662810	NONHSAT130148
48	lnc-KDM4C-2	chr9:6707542-6707763	XLOC_007275
49	lnc-KDM4C-2	chr9:6704339-6704366	NONHSAT130152
50	lnc-KDM4C-14	chr9:6661651-6661936	NONHSAT130147

No data

Variant related genes	Relation type
ENSG00000236924	TF binding region
ENSG00000229611	TF binding region
ENSG00000232946	TF binding region
KDM4C	TF binding region
RNF2P1	TF binding region
ENSG00000231108	TF binding region
ENSG00000206147	TF binding region
ENSG00000229057	TF binding region
ENSG00000225489	TF binding region
RN7SL123P	TF binding region
GLDC	TF binding region
ENSG00000236924	CpG island
ENSG00000229611	CpG island
ENSG00000232946	CpG island
KDM4C	CpG island
RNF2P1	CpG island
ENSG00000231108	CpG island
ENSG00000206147	CpG island
ENSG00000229057	CpG island
ENSG00000225489	CpG island
RN7SL123P	CpG island
GLDC	CpG island
ENSG00000147854	chromatin interactions
ENSG00000051009	chromatin interactions
ENSG00000117308	chromatin interactions
ENSG00000072210	chromatin interactions
ENSG00000160271	chromatin interactions
ENSG00000229611	chromatin interactions
ENSG00000229057	chromatin interactions
ENSG00000173559	chromatin interactions
ENSG00000065357	chromatin interactions
ENSG00000162065	chromatin interactions
ENSG00000273355	chromatin interactions
ENSG00000150768	chromatin interactions
ENSG00000266863	chromatin interactions
ENSG00000232946	chromatin interactions
ENSG00000225489	chromatin interactions
ENSG00000170043	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000132259	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000178445	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000170265	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000177426	chromatin interactions
ENSG00000105372	chromatin interactions
ENSG00000134602	chromatin interactions
ENSG00000101220	chromatin interactions
ENSG00000215717	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000107077	chromatin interactions
ENSG00000197323	chromatin interactions
ENSG00000105327	chromatin interactions
ENSG00000231381	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000206147	chromatin interactions
ENSG00000156875	chromatin interactions
ENSG00000170037	chromatin interactions
ENSG00000272716	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000170473	chromatin interactions
ENSG00000236924	chromatin interactions
ENSG00000168944	chromatin interactions
ENSG00000273382	chromatin interactions
ENSG00000079999	chromatin interactions
ENSG00000107036	chromatin interactions
ENSG00000165115	chromatin interactions
ENSG00000100504	chromatin interactions
NXT2	miRNA target sites
DNMT3A	miRNA target sites

Extended variants
information (count: 7110 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:7110 , 50 per page) page: 1 2 3 4 5 6 7 ... 143

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2578264	chr9:6619819-6619820	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368303794	chr9:6619822-6619823	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375396152	chr9:6619868-6619869	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115255756	chr9:6619874-6619875	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143265885	chr9:6619898-6619899	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578015138	chr9:6619900-6619901	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147538566	chr9:6619925-6619926	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4740853	chr9:6619995-6619996	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs114125810	chr9:6620007-6620008	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs148400315	chr9:6620010-6620011	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs527587759	chr9:6620012-6620013	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs561049933	chr9:6620028-6620029	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs528130643	chr9:6620035-6620036	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs192862054	chr9:6620037-6620038	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs571475843	chr9:6620043-6620044	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532552831	chr9:6620044-6620045	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs551284824	chr9:6620054-6620055	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs2118653	chr9:6620059-6620060	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs559069479	chr9:6620063-6620064	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs367903606	chr9:6620102-6620103	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs548248170	chr9:6620104-6620105	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs115202450	chr9:6620108-6620109	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs111758504	chr9:6620121-6620122	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs59076886	chr9:6620137-6620138	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs374479576	chr9:6620142-6620143	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs568878503	chr9:6620144-6620145	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs201770912	chr9:6620148-6620149	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs553220071	chr9:6620157-6620158	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs370318779	chr9:6620158-6620159	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs374317469	chr9:6620159-6620160	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs142534180	chr9:6620173-6620174	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs386833579	chr9:6620197-6620198	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs386833578	chr9:6620205-6620206	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs539491832	chr9:6620207-6620208	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs538431715	chr9:6620208-6620209	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs183024300	chr9:6620209-6620210	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs13289273	chr9:6620216-6620217	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs376578742	chr9:6620217-6620218	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs368798241	chr9:6620234-6620235	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs141609010	chr9:6620238-6620239	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs386833577	chr9:6620241-6620242	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs542613459	chr9:6620258-6620259	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs386833576	chr9:6620259-6620260	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs147066809	chr9:6620265-6620266	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs370683363	chr9:6620287-6620288	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs373940475	chr9:6620329-6620330	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs368350300	chr9:6620344-6620345	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs374627513	chr9:6620356-6620357	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs200795957	chr9:6620369-6620370	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs367767523	chr9:6620370-6620371	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Dyslexia	22102821	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2374 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6598600-6626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:6605200-6632800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:6605600-6625600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:6607400-6621400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:6612400-6621800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:6612400-6624000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:6614000-6620400	Strong transcription	Liver	Liver
8	chr9:6617200-6620600	Strong transcription	HepG2	liver
9	chr9:6617400-6620000	Genic enhancers	GM12878-XiMat	blood
10	chr9:6617400-6621200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:6617800-6620200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr9:6618000-6620200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:6618400-6620800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:6618400-6623800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:6618400-6623800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:6618600-6620600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr9:6618600-6621400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr9:6618800-6625600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr9:6619000-6620200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:6619000-6620600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:6619200-6620200	Enhancers	Primary B cells from peripheral blood	blood
22	chr9:6619800-6620400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr9:6620000-6621400	Flanking Active TSS	GM12878-XiMat	blood
24	chr9:6620200-6621200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr9:6620200-6623800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr9:6620200-6625600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:6620400-6621800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr9:6620400-6623800	Weak transcription	Liver	Liver
29	chr9:6620600-6623600	Weak transcription	HepG2	liver
30	chr9:6620600-6623800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:6620600-6625800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:6620800-6621200	Enhancers	HMEC	breast
33	chr9:6620800-6623600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:6621200-6622200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr9:6621200-6622400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:6621400-6621600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr9:6621400-6622200	Enhancers	GM12878-XiMat	blood
38	chr9:6621800-6622200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr9:6622200-6623600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr9:6622200-6625800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr9:6622200-6628000	Weak transcription	GM12878-XiMat	blood
42	chr9:6622400-6625600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:6623600-6624000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:6623600-6624600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:6623600-6624600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr9:6623600-6624600	Genic enhancers	HepG2	liver
47	chr9:6623800-6624000	Enhancers	Fetal Intestine Small	intestine
48	chr9:6623800-6624200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
49	chr9:6623800-6624200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr9:6623800-6624400	Genic enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links