Variant report

Variant	esv3494115
Chromosome Location	chr9:95945281-95948679
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr9:95945961-95946711	H1-hESC	embryonic stem cell:	n/a	n/a
2	CCNT2	chr9:95946134-95946683	K562	blood:	n/a	chr9:95946552-95946561
3	CHD1	chr9:95947595-95947713	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr9:95946474-95946523	Hela-S3	cervix:	n/a	n/a
5	CREB1	chr9:95946252-95946651	A549	lung:	n/a	n/a
6	CTBP2	chr9:95945756-95946998	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr9:95946269-95946454	Spleen_OC	spleen:	n/a	chr9:95946310-95946323 chr9:95946307-95946320
8	CTCF	chr9:95946100-95946250	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr9:95946080-95946230	HMEC	breast:	n/a	n/a
10	E2F6	chr9:95947004-95947540	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr9:95946299-95946847	H1-hESC	embryonic stem cell:	n/a	chr9:95946607-95946619 chr9:95946606-95946617 chr9:95946781-95946791
12	E2F6	chr9:95946192-95946779	K562	blood:	n/a	chr9:95946607-95946619 chr9:95946606-95946617
13	E2F6	chr9:95946067-95946865	A549	lung:	n/a	chr9:95946607-95946619 chr9:95946606-95946617 chr9:95946781-95946791
14	E2F6	chr9:95946247-95946741	A549	lung:	n/a	chr9:95946607-95946619 chr9:95946606-95946617
15	E2F6	chr9:95946248-95946757	K562	blood:	n/a	chr9:95946607-95946619 chr9:95946606-95946617
16	E2F6	chr9:95946009-95946844	H1-hESC	embryonic stem cell:	n/a	chr9:95946607-95946619 chr9:95946606-95946617 chr9:95946781-95946791
17	E2F6	chr9:95946166-95946971	K562	blood:	n/a	chr9:95946607-95946619 chr9:95946606-95946617 chr9:95946781-95946791
18	EGR1	chr9:95946255-95946527	K562	blood:	n/a	chr9:95946414-95946424 chr9:95946445-95946458 chr9:95946316-95946326
19	EGR1	chr9:95946252-95946559	K562	blood:	n/a	chr9:95946414-95946424 chr9:95946445-95946458 chr9:95946316-95946326
20	EGR1	chr9:95947539-95947770	K562	blood:	n/a	n/a
21	ELF1	chr9:95946260-95946574	K562	blood:	n/a	n/a
22	FOXA1	chr9:95944990-95945393	HepG2	liver:	n/a	n/a
23	FOXA1	chr9:95944947-95945317	HepG2	liver:	n/a	n/a
24	FOXA1	chr9:95944918-95945424	HepG2	liver:	n/a	n/a
25	FOXA2	chr9:95944929-95945328	HepG2	liver:	n/a	n/a
26	FOXP2	chr9:95946254-95946776	PFSK-1	brain:	n/a	n/a
27	GABPA	chr9:95946323-95946671	H1-hESC	embryonic stem cell:	n/a	chr9:95946423-95946432
28	GABPA	chr9:95946773-95947280	H1-hESC	embryonic stem cell:	n/a	n/a
29	GTF2F1	chr9:95946551-95946587	H1-hESC	embryonic stem cell:	n/a	n/a
30	GTF2F1	chr9:95947722-95947734	H1-hESC	embryonic stem cell:	n/a	n/a
31	HDAC2	chr9:95946221-95946660	HepG2	liver:	n/a	n/a
32	HDAC2	chr9:95944996-95945378	HepG2	liver:	n/a	n/a
33	HEY1	chr9:95946340-95946591	K562	blood:	n/a	chr9:95946445-95946460 chr9:95946530-95946545 chr9:95946413-95946428 chr9:95946494-95946509 chr9:95946480-95946495
34	HEY1	chr9:95946151-95946628	HepG2	liver:	n/a	chr9:95946445-95946460 chr9:95946530-95946545 chr9:95946413-95946428 chr9:95946494-95946509 chr9:95946480-95946495
35	HEY1	chr9:95946326-95946626	HepG2	liver:	n/a	chr9:95946445-95946460 chr9:95946530-95946545 chr9:95946413-95946428 chr9:95946494-95946509 chr9:95946480-95946495
36	HEY1	chr9:95946374-95946599	K562	blood:	n/a	chr9:95946445-95946460 chr9:95946530-95946545 chr9:95946413-95946428 chr9:95946494-95946509 chr9:95946480-95946495
37	HMGN3	chr9:95946298-95946652	K562	blood:	n/a	n/a
38	IRF1	chr9:95946247-95946571	K562	blood:	n/a	chr9:95946410-95946424 chr9:95946394-95946408
39	JUND	chr9:95946268-95946599	A549	lung:	n/a	n/a
40	MAX	chr9:95945873-95946763	ECC-1	luminal epithelium:	n/a	chr9:95946413-95946423
41	MAX	chr9:95945867-95946818	H1-hESC	embryonic stem cell:	n/a	chr9:95946413-95946423
42	MAX	chr9:95945819-95946876	HCT-116	colon:	n/a	chr9:95946413-95946423
43	MAX	chr9:95945838-95946889	A549	lung:	n/a	chr9:95946413-95946423
44	MAX	chr9:95946174-95946666	Hela-S3	cervix:	n/a	chr9:95946413-95946423
45	MAX	chr9:95946118-95946693	A549	lung:	n/a	chr9:95946413-95946423
46	MAX	chr9:95946298-95946705	K562	blood:	n/a	chr9:95946413-95946423
47	MAX	chr9:95945985-95946853	H1-hESC	embryonic stem cell:	n/a	chr9:95946413-95946423
48	MAX	chr9:95945961-95946884	ECC-1	luminal epithelium:	n/a	chr9:95946413-95946423
49	MAX	chr9:95945830-95947338	HepG2	liver:	n/a	chr9:95946413-95946423
50	MAX	chr9:95945951-95946740	A549	lung:	n/a	chr9:95946413-95946423

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:95947146-95947196	GM06990	blood:	n/a
2	chr9:95948059-95948109	GM12878	blood:	n/a
3	chr9:95947766-95947816	GM12878	blood:	n/a
4	chr9:95946891-95946941	ovcar-3	ovarian:	n/a
5	chr9:95947766-95947816	GM12892	blood:	n/a
6	chr9:95946148-95946198	CMK	blood:	n/a
7	chr9:95947396-95947446	PANC-1	pancreas:	n/a
8	chr9:95948059-95948109	AG04450	lung:	fetal
9	chr9:95947146-95947196	HNPCEpiC	eye:	n/a
10	chr9:95946891-95946941	HCM	heart:	n/a
11	chr9:95947396-95947446	AG04449	skin:	fetal
12	chr9:95946891-95946941	K562	blood:	n/a
13	chr9:95946891-95946941	H1-hESC	embryonic stem cell:	embryo
14	chr9:95947146-95947196	BE2_C	brain:	n/a
15	chr9:95947396-95947446	AG04450	lung:	fetal
16	chr9:95946148-95946198	PFSK-1	brain:	n/a
17	chr9:95946148-95946198	IMR90	lung:	fetal
18	chr9:95946891-95946941	ECC-1	luminal epithelium:	n/a
19	chr9:95948059-95948109	HepG2	liver:	n/a
20	chr9:95946891-95946941	Caco-2	colon:	n/a
21	chr9:95946148-95946198	SAEC	small airway:	n/a
22	chr9:95947146-95947196	NHDF-neo	bronchial:	n/a
23	chr9:95947146-95947196	T-47D	breast:	n/a
24	chr9:95947396-95947446	HEEpiC	esophagus:	n/a
25	chr9:95947396-95947446	ECC-1	luminal epithelium:	n/a
26	chr9:95946891-95946941	AG04450	lung:	fetal
27	chr9:95947766-95947816	MCF10A-Er-Src	breast:	n/a
28	chr9:95947146-95947196	RPTEC	kidney:	n/a
29	chr9:95947766-95947816	A549	lung:	n/a
30	chr9:95946891-95946941	LNCaP	prostate:	n/a
31	chr9:95947146-95947196	HL-60	blood:	n/a
32	chr9:95946148-95946198	HUVEC	blood vessel:	n/a
33	chr9:95946891-95946941	Jurkat	blood:	n/a
34	chr9:95946148-95946198	HPAEpiC	pulmonary alveolar:	n/a
35	chr9:95947396-95947446	HEK293	kidney:	embryo
36	chr9:95947766-95947816	Caco-2	colon:	n/a
37	chr9:95948059-95948109	HPAEpiC	pulmonary alveolar:	n/a
38	chr9:95947766-95947816	CMK	blood:	n/a
39	chr9:95948059-95948109	AG10803	skin:	n/a
40	chr9:95947396-95947446	PFSK-1	brain:	n/a
41	chr9:95946148-95946198	MCF-7	breast:	n/a
42	chr9:95946891-95946941	AG10803	skin:	n/a
43	chr9:95947146-95947196	H1-hESC	embryonic stem cell:	embryo
44	chr9:95946891-95946941	NT2-D1	testis:	n/a
45	chr9:95947766-95947816	HRCEpiC	kidney:	n/a
46	chr9:95946148-95946198	HRCEpiC	kidney:	n/a
47	chr9:95947146-95947196	HCPEpiC	choroid plexus:	n/a
48	chr9:95947766-95947816	AoSMC	blood vessel:	n/a
49	chr9:95946148-95946198	Jurkat	blood:	n/a
50	chr9:95947146-95947196	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:95947943..95949965-chr9:95968515..95970941,2	K562	blood:
2	chr9:95945010..95947116-chr9:96042384..96044882,2	MCF-7	breast:
3	chr9:95943290..95945540-chr9:95952949..95954790,2	K562	blood:
4	chr9:95895042..95899051-chr9:95945154..95949540,5	MCF-7	breast:
5	chr9:95856307..95858930-chr9:95945344..95947454,2	MCF-7	breast:
6	chr9:95611802..95614664-chr9:95945185..95946709,2	MCF-7	breast:

Variant related genes	Relation type
WNK2	TF binding region
WNK2	CpG island
ENSG00000223446	chromatin interactions
ENSG00000131669	chromatin interactions
ENSG00000165233	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535395617	chr9:95945282-95945283	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs377727193	chr9:95945326-95945327	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs190937585	chr9:95945327-95945328	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs76786528	chr9:95945359-95945360	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs539183653	chr9:95945403-95945404	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs557923285	chr9:95945407-95945408	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs573150046	chr9:95945413-95945414	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs540433454	chr9:95945587-95945588	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs562362853	chr9:95945651-95945652	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs574264871	chr9:95945689-95945690	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs544564464	chr9:95945711-95945712	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs151254187	chr9:95945759-95945760	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs565535712	chr9:95945904-95945905	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs35154446	chr9:95945941-95945942	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs533448173	chr9:95945963-95945964	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs182832047	chr9:95945976-95945977	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs140424063	chr9:95946067-95946068	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs114883971	chr9:95946153-95946154	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs532814710	chr9:95946158-95946159	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs75476871	chr9:95946232-95946233	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs568317263	chr9:95946265-95946266	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs535413793	chr9:95946318-95946319	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs7045686	chr9:95946332-95946333	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568802268	chr9:95946408-95946409	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs192462813	chr9:95946484-95946485	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs557387399	chr9:95946518-95946519	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs529286954	chr9:95946572-95946573	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs566241323	chr9:95946590-95946591	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs534089147	chr9:95946677-95946678	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs572071490	chr9:95946725-95946726	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs574251450	chr9:95946768-95946769	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs544611112	chr9:95946836-95946837	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs367596127	chr9:95946945-95946946	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs556511066	chr9:95946979-95946980	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs150429741	chr9:95947042-95947043	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs138367435	chr9:95947053-95947054	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs560530638	chr9:95947121-95947122	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs569715513	chr9:95947149-95947150	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs527809284	chr9:95947169-95947170	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs374548949	chr9:95947173-95947174	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs75871344	chr9:95947240-95947241	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs553148876	chr9:95947427-95947428	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs561768961	chr9:95947474-95947475	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141292063	chr9:95947478-95947479	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550649600	chr9:95947530-95947531	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs569138134	chr9:95947581-95947582	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs532728794	chr9:95947620-95947621	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs112049209	chr9:95947681-95947682	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375103896	chr9:95947691-95947692	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369083880	chr9:95947703-95947704	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95943000-95945600	Weak transcription	Esophagus	oesophagus
2	chr9:95943000-95945600	Enhancers	Right Ventricle	heart
3	chr9:95943200-95945400	Weak transcription	Spleen	Spleen
4	chr9:95944000-95945800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr9:95944200-95945800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr9:95944200-95946000	Enhancers	Left Ventricle	heart
7	chr9:95944200-95946000	Enhancers	Pancreas	Pancrea
8	chr9:95944400-95945800	Bivalent Enhancer	Stomach Mucosa	stomach
9	chr9:95944400-95945800	Enhancers	Stomach Smooth Muscle	stomach
10	chr9:95944400-95946200	Enhancers	Gastric	stomach
11	chr9:95944600-95945600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr9:95944600-95945600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr9:95944800-95945600	Bivalent Enhancer	HepG2	liver
14	chr9:95944800-95945800	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr9:95944800-95945800	Bivalent Enhancer	Fetal Stomach	stomach
16	chr9:95944800-95946000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr9:95945000-95945400	Flanking Active TSS	Fetal Heart	heart
18	chr9:95945000-95945800	Enhancers	Brain Germinal Matrix	brain
19	chr9:95945000-95945800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
20	chr9:95945000-95945800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr9:95945000-95946000	Weak transcription	Right Atrium	heart
22	chr9:95945200-95945400	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr9:95945200-95945600	Weak transcription	Psoas Muscle	Psoas
24	chr9:95945200-95945800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr9:95945200-95945800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:95945200-95945800	Enhancers	Colon Smooth Muscle	Colon
27	chr9:95945200-95945800	Bivalent Enhancer	Fetal Intestine Small	intestine
28	chr9:95945200-95945800	Bivalent Enhancer	Fetal Thymus	thymus
29	chr9:95945400-95945600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
30	chr9:95945400-95945600	Enhancers	Fetal Brain Female	brain
31	chr9:95945400-95945800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
32	chr9:95945400-95945800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
33	chr9:95945400-95945800	Bivalent Enhancer	Fetal Intestine Large	intestine
34	chr9:95945400-95946000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:95945400-95946000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr9:95945400-95946000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr9:95945400-95946000	Enhancers	Spleen	Spleen
38	chr9:95945400-95946200	Enhancers	Fetal Heart	heart
39	chr9:95945600-95945800	Bivalent Enhancer	Primary B cells from cord blood	blood
40	chr9:95945600-95945800	Bivalent Enhancer	Primary T cells from cord blood	blood
41	chr9:95945600-95945800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr9:95945600-95945800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr9:95945600-95945800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:95945600-95945800	Enhancers	Brain Anterior Caudate	brain
45	chr9:95945600-95945800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr9:95945600-95945800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
47	chr9:95945600-95945800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
48	chr9:95945600-95945800	Active TSS	Hela-S3	cervix
49	chr9:95945600-95946000	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:95945600-95946000	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood

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