Variant report

Variant	esv1844606
Chromosome Location	chr4:122871632-122878371
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	chr4:122872228-122872422	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr4:122871221-122871646	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr4:122873041-122873054	K562	blood:	n/a	n/a
4	BHLHE40	chr4:122872995-122873009	GM12878	blood:	n/a	n/a
5	CCNT2	chr4:122871341-122871641	K562	blood:	n/a	n/a
6	CCNT2	chr4:122872730-122873119	K562	blood:	n/a	n/a
7	CHD1	chr4:122872811-122872831	GM12878	blood:	n/a	n/a
8	CHD1	chr4:122872765-122872911	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr4:122871281-122871709	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr4:122872947-122872995	HepG2	liver:	n/a	n/a
11	CHD2	chr4:122871383-122871753	K562	blood:	n/a	n/a
12	CHD2	chr4:122871349-122871639	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr4:122872850-122873044	K562	blood:	n/a	n/a
14	CREB1	chr4:122871277-122871690	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr4:122871263-122873117	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr4:122871364-122871643	Medullo	brain:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
17	CTCF	chr4:122871369-122871640	K562	blood:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
18	CTCF	chr4:122871280-122871780	IMR90	lung:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
19	CTCF	chr4:122871323-122871657	Spleen_OC	spleen:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
20	CTCF	chr4:122871333-122871670	GM19238	blood:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
21	CTCF	chr4:122871310-122871731	GM12878	blood:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
22	CTCF	chr4:122871378-122871639	GM20000	blood:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
23	CTCF	chr4:122871345-122871666	Gliobla	brain:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
24	CTCF	chr4:122871345-122871645	GM13977	blood:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
25	CTCF	chr4:122871217-122871727	H1-hESC	embryonic stem cell:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
26	CTCF	chr4:122871351-122871635	H1-hESC	embryonic stem cell:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
27	CTCF	chr4:122871329-122871673	A549	lung:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
28	CTCF	chr4:122872960-122873110	AG04449	skin:	n/a	n/a
29	CTCF	chr4:122871358-122871647	GM12891	blood:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
30	CTCF	chr4:122871354-122871656	A549	lung:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
31	CTCF	chr4:122871390-122871636	Pancreas_OC	pancreas:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
32	CTCF	chr4:122871500-122871650	WI-38	lung:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
33	CTCF	chr4:122871362-122871635	Lung_OC	lung:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
34	CTCF	chr4:122871354-122871653	Fibrobl	skin:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
35	CTCF	chr4:122871105-122871780	A549	lung:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
36	CTCF	chr4:122871356-122871658	A549	lung:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
37	CTCF	chr4:122872680-122872830	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr4:122871287-122871647	ECC-1	luminal epithelium:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
39	CTCF	chr4:122871287-122871667	K562	blood:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
40	CTCF	chr4:122872820-122872970	GM12866	blood:	n/a	n/a
41	CTCF	chr4:122872679-122872814	GM19239	blood:	n/a	n/a
42	CTCF	chr4:122871361-122871649	ProgFib	skin:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
43	CTCF	chr4:122871337-122871635	HepG2	liver:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
44	CTCF	chr4:122871232-122871743	HCT-116	colon:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
45	CTCF	chr4:122871300-122871654	K562	blood:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
46	CTCF	chr4:122871335-122871672	GM12892	blood:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
47	CTCF	chr4:122871397-122871632	NHEK	skin:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
48	CTCF	chr4:122871177-122871666	GM19240	blood:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
49	CTCF	chr4:122871414-122871633	A549	lung:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518
50	CTCF	chr4:122871302-122871705	K562	blood:	n/a	chr4:122871504-122871517 chr4:122871501-122871519 chr4:122871506-122871516 chr4:122871503-122871524 chr4:122871502-122871518

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:122873181-122873231	SK-N-MC	brain:	n/a
2	chr4:122872836-122872886	HepG2	liver:	n/a
3	chr4:122873181-122873231	SK-N-MC	brain:	n/a
4	chr4:122872836-122872886	HepG2	liver:	n/a
5	chr4:122873487-122873537	SK-N-SH_RA	brain:	n/a
6	chr4:122873018-122873068	AoSMC	blood vessel:	n/a
7	chr4:122871876-122871926	GM12891	blood:	n/a
8	chr4:122872996-122873046	Caco-2	colon:	n/a
9	chr4:122872996-122873046	HIPEpiC	eye:	n/a
10	chr4:122873181-122873231	AG09319	gingival:	n/a
11	chr4:122872838-122872888	HRPEpiC	eye:	n/a
12	chr4:122873147-122873197	ProgFib	skin:	n/a
13	chr4:122871876-122871926	HL-60	blood:	n/a
14	chr4:122872367-122872417	HL-60	blood:	n/a
15	chr4:122873018-122873068	GM12892	blood:	n/a
16	chr4:122872996-122873046	K562	blood:	n/a
17	chr4:122872838-122872888	GM19239	blood:	n/a
18	chr4:122872351-122872401	NB4	blood:	n/a
19	chr4:122873018-122873068	SKMC	muscle:	n/a
20	chr4:122872285-122872335	NHBE	bronchial:	n/a
21	chr4:122871876-122871926	GM19239	blood:	n/a
22	chr4:122872996-122873046	AG09309	skin:	n/a
23	chr4:122872367-122872417	HCF	heart:	n/a
24	chr4:122873018-122873068	HEEpiC	esophagus:	n/a
25	chr4:122875768-122875818	ProgFib	skin:	n/a
26	chr4:122871735-122871785	LNCaP	prostate:	n/a
27	chr4:122875768-122875818	IMR90	lung:	fetal
28	chr4:122871735-122871785	HepG2	liver:	n/a
29	chr4:122873147-122873197	MCF-7	breast:	n/a
30	chr4:122872836-122872886	MCF10A-Er-Src	breast:	n/a
31	chr4:122873181-122873231	HRCEpiC	kidney:	n/a
32	chr4:122875768-122875818	BE2_C	brain:	n/a
33	chr4:122875768-122875818	Hepatocyte	liver:	n/a
34	chr4:122872285-122872335	GM12878	blood:	n/a
35	chr4:122871876-122871926	A549	lung:	n/a
36	chr4:122872367-122872417	HUVEC	blood vessel:	n/a
37	chr4:122872285-122872335	MCF10A-Er-Src	breast:	n/a
38	chr4:122873018-122873068	LNCaP	prostate:	n/a
39	chr4:122871876-122871926	HIPEpiC	eye:	n/a
40	chr4:122872285-122872335	SK-N-SH	brain:	n/a
41	chr4:122873147-122873197	SK-N-SH	brain:	n/a
42	chr4:122871876-122871926	GM12892	blood:	n/a
43	chr4:122873147-122873197	K562	blood:	n/a
44	chr4:122872351-122872401	AG09309	skin:	n/a
45	chr4:122871876-122871926	HPAEpiC	pulmonary alveolar:	n/a
46	chr4:122871876-122871926	PrEC	prostate:	n/a
47	chr4:122872996-122873046	NHBE	bronchial:	n/a
48	chr4:122875768-122875818	NH-A	brain:	n/a
49	chr4:122875768-122875818	AG04450	lung:	fetal
50	chr4:122873147-122873197	HRPEpiC	eye:	n/a

Variant related genes	Relation type
TRPC3	TF binding region
TRPC3	CpG island

Extended variants
information (count: 248 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs970349	chr4:122871632-122871633	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533156250	chr4:122871644-122871645	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369548714	chr4:122871659-122871660	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566133760	chr4:122871689-122871690	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534732561	chr4:122871719-122871720	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554905464	chr4:122871762-122871763	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192999229	chr4:122871782-122871783	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537390885	chr4:122871792-122871793	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184810987	chr4:122871849-122871850	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577052170	chr4:122871991-122871992	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189635302	chr4:122872039-122872040	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs115648572	chr4:122872057-122872058	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs191308525	chr4:122872100-122872101	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs541462804	chr4:122872104-122872105	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs561626180	chr4:122872178-122872179	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs57586768	chr4:122872240-122872241	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs114166592	chr4:122872288-122872289	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs547621595	chr4:122872296-122872297	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs544562848	chr4:122872305-122872306	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs72919988	chr4:122872321-122872322	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs372307317	chr4:122872326-122872327	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs370368440	chr4:122872424-122872425	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs149301881	chr4:122872468-122872469	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs566242521	chr4:122872517-122872518	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs528547311	chr4:122872547-122872548	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs548386120	chr4:122872662-122872663	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs201270718	chr4:122872690-122872691	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs1396082	chr4:122872719-122872720	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537026436	chr4:122872746-122872747	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs200277892	chr4:122872758-122872759	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs372659964	chr4:122872792-122872793	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs201517101	chr4:122872822-122872823	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs199665399	chr4:122872858-122872859	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs200829702	chr4:122872860-122872861	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs570776516	chr4:122872867-122872868	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs535832857	chr4:122872873-122872874	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs539667509	chr4:122872874-122872875	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs375661321	chr4:122872875-122872876	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs114185873	chr4:122872901-122872902	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs572859932	chr4:122872908-122872909	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs541947532	chr4:122872931-122872932	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs555496354	chr4:122872952-122872953	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs555885028	chr4:122873018-122873019	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs575337752	chr4:122873022-122873023	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs374852283	chr4:122873090-122873091	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs368268184	chr4:122873112-122873113	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs369322943	chr4:122873146-122873147	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs111866668	chr4:122873168-122873169	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs564396942	chr4:122873452-122873453	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs78785361	chr4:122873465-122873466	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122870800-122872200	Active TSS	Fetal Heart	heart
2	chr4:122870800-122873400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr4:122870800-122873800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr4:122871000-122872600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr4:122871000-122873000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:122871000-122873400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr4:122871000-122873600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:122871000-122873600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr4:122871000-122873600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:122871000-122873600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr4:122871200-122871800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:122871200-122871800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:122871200-122872000	Active TSS	Muscle Satellite Cultured Cells	--
14	chr4:122871200-122872000	Active TSS	Brain Hippocampus Middle	brain
15	chr4:122871200-122872000	Enhancers	Pancreas	Pancrea
16	chr4:122871200-122872000	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr4:122871200-122872200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:122871200-122872200	Active TSS	Brain Cingulate Gyrus	brain
19	chr4:122871200-122872200	Bivalent Enhancer	Fetal Brain Male	brain
20	chr4:122871200-122872200	Active TSS	Right Ventricle	heart
21	chr4:122871200-122872200	Active TSS	Stomach Smooth Muscle	stomach
22	chr4:122871200-122872400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
23	chr4:122871200-122872400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
24	chr4:122871200-122872400	Flanking Bivalent TSS/Enh	HepG2	liver
25	chr4:122871200-122872600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
26	chr4:122871200-122872600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr4:122871200-122872600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:122871200-122872600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr4:122871200-122872800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
30	chr4:122871200-122872800	Active TSS	Right Atrium	heart
31	chr4:122871200-122873000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:122871200-122873000	Bivalent/Poised TSS	A549	lung
33	chr4:122871200-122873200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:122871200-122873200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:122871200-122873200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:122871200-122873200	Active TSS	Brain Angular Gyrus	brain
37	chr4:122871200-122873200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr4:122871200-122873400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:122871200-122873400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:122871200-122873400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:122871200-122873400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:122871200-122873400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:122871200-122873400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:122871200-122873400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:122871200-122873400	Active TSS	Colon Smooth Muscle	Colon
46	chr4:122871200-122873400	Active TSS	HSMM	muscle
47	chr4:122871200-122873600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
48	chr4:122871200-122873600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:122871200-122873600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:122871200-122873600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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