Variant report

Variant	esv3418337
Chromosome Location	chr7:150782769-150784967
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	ARID3A	chr7:150784925-150785050	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:150784597-150784685	K562	blood:	n/a	n/a
3	ATF2	chr7:150784006-150784319	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr7:150784333-150784745	K562	blood:	n/a	chr7:150784635-150784649
5	BACH1	chr7:150783240-150783336	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr7:150782687-150783458	A549	lung:	n/a	n/a
7	BCL3	chr7:150784456-150785092	A549	lung:	n/a	chr7:150784932-150784941 chr7:150784534-150784547 chr7:150784653-150784662 chr7:150784539-150784548 chr7:150784798-150784811 chr7:150784589-150784602
8	BCLAF1	chr7:150784407-150785167	GM12878	blood:	n/a	chr7:150784932-150784941 chr7:150784534-150784547 chr7:150784653-150784662 chr7:150784539-150784548 chr7:150784798-150784811 chr7:150784589-150784602
9	BCLAF1	chr7:150784450-150785166	GM12878	blood:	n/a	chr7:150784932-150784941 chr7:150784534-150784547 chr7:150784653-150784662 chr7:150784539-150784548 chr7:150784798-150784811 chr7:150784589-150784602
10	BCLAF1	chr7:150784019-150784933	K562	blood:	n/a	chr7:150784534-150784547 chr7:150784653-150784662 chr7:150784539-150784548 chr7:150784798-150784811 chr7:150784589-150784602
11	BHLHE40	chr7:150783115-150783679	GM12878	blood:	n/a	chr7:150783487-150783503 chr7:150783640-150783656 chr7:150783621-150783637
12	BHLHE40	chr7:150784076-150784864	K562	blood:	n/a	chr7:150784668-150784684
13	BHLHE40	chr7:150782589-150783670	K562	blood:	n/a	chr7:150783487-150783503 chr7:150783640-150783656 chr7:150783621-150783637
14	BHLHE40	chr7:150783176-150783674	HepG2	liver:	n/a	chr7:150783487-150783503 chr7:150783640-150783656 chr7:150783621-150783637
15	BHLHE40	chr7:150784505-150785087	GM12878	blood:	n/a	chr7:150784668-150784684
16	BRCA1	chr7:150783146-150783355	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr7:150784445-150784823	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr7:150783168-150783316	GM12878	blood:	n/a	n/a
19	BRCA1	chr7:150784697-150784756	HepG2	liver:	n/a	n/a
20	CBX3	chr7:150781821-150783731	K562	blood:	n/a	n/a
21	CBX3	chr7:150783950-150785166	K562	blood:	n/a	n/a
22	CCNT2	chr7:150782931-150785064	K562	blood:	n/a	chr7:150783672-150783681 chr7:150784355-150784364
23	CEBPB	chr7:150784666-150784872	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr7:150782721-150783465	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr7:150782773-150782938	K562	blood:	n/a	n/a
26	CEBPB	chr7:150784722-150784786	IMR90	lung:	n/a	n/a
27	CEBPB	chr7:150784753-150785226	GM12878	blood:	n/a	n/a
28	CEBPB	chr7:150784138-150784317	Hela-S3	cervix:	n/a	n/a
29	CEBPD	chr7:150783421-150783657	HepG2	liver:	n/a	n/a
30	CEBPD	chr7:150782876-150783700	HepG2	liver:	n/a	n/a
31	CEBPD	chr7:150783115-150783333	HepG2	liver:	n/a	n/a
32	CHD1	chr7:150783491-150787518	IMR90	lung:	n/a	n/a
33	CHD1	chr7:150784448-150785312	GM12878	blood:	n/a	n/a
34	CHD1	chr7:150783149-150783262	H1-hESC	embryonic stem cell:	n/a	chr7:150783246-150783256
35	CHD1	chr7:150784098-150784397	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr7:150784481-150785111	GM12878	blood:	n/a	n/a
37	CHD2	chr7:150784070-150785240	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr7:150784426-150785043	HepG2	liver:	n/a	n/a
39	CHD2	chr7:150782578-150782841	K562	blood:	n/a	chr7:150782671-150782681
40	CHD2	chr7:150783138-150783352	HepG2	liver:	n/a	chr7:150783246-150783256
41	CHD2	chr7:150783059-150783368	K562	blood:	n/a	chr7:150783246-150783256
42	CHD2	chr7:150784369-150784998	K562	blood:	n/a	n/a
43	CHD2	chr7:150783106-150783412	GM12878	blood:	n/a	chr7:150783246-150783256
44	CHD2	chr7:150782629-150783736	Hela-S3	cervix:	n/a	chr7:150782671-150782681 chr7:150783246-150783256
45	CREB1	chr7:150784503-150784776	A549	lung:	n/a	n/a
46	CREB1	chr7:150783461-150783639	A549	lung:	n/a	n/a
47	CREB1	chr7:150783176-150783751	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr7:150783064-150783848	A549	lung:	n/a	n/a
49	CREB1	chr7:150782315-150783767	HepG2	liver:	n/a	n/a
50	CTBP2	chr7:150782912-150783324	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150783791-150783841	HRPEpiC	eye:	n/a
2	chr7:150783881-150783931	AG04450	lung:	fetal
3	chr7:150783219-150783269	U87	brain:	n/a
4	chr7:150783413-150783463	GM06990	blood:	n/a
5	chr7:150784390-150784440	LNCaP	prostate:	n/a
6	chr7:150783409-150783459	K562	blood:	n/a
7	chr7:150783413-150783463	Jurkat	blood:	n/a
8	chr7:150783219-150783269	HCM	heart:	n/a
9	chr7:150783409-150783459	NT2-D1	testis:	n/a
10	chr7:150783199-150783249	SAEC	small airway:	n/a
11	chr7:150783409-150783459	PANC-1	pancreas:	n/a
12	chr7:150783219-150783269	MCF10A-Er-Src	breast:	n/a
13	chr7:150783788-150783838	H1-hESC	embryonic stem cell:	embryo
14	chr7:150783791-150783841	HNPCEpiC	eye:	n/a
15	chr7:150783881-150783931	GM12878	blood:	n/a
16	chr7:150783788-150783838	HRE	kidney:	n/a
17	chr7:150783132-150783182	Hepatocyte	liver:	n/a
18	chr7:150783132-150783182	HNPCEpiC	eye:	n/a
19	chr7:150784390-150784440	HAEpiC	amniotic membrane:	n/a
20	chr7:150783881-150783931	HCF	heart:	n/a
21	chr7:150783132-150783182	NHBE	bronchial:	n/a
22	chr7:150783788-150783838	MCF10A-Er-Src	breast:	n/a
23	chr7:150783409-150783459	HCPEpiC	choroid plexus:	n/a
24	chr7:150783199-150783249	MCF-7	breast:	n/a
25	chr7:150783132-150783182	HCT-116	colon:	n/a
26	chr7:150783881-150783931	SK-N-SH_RA	brain:	n/a
27	chr7:150783413-150783463	LNCaP	prostate:	n/a
28	chr7:150783199-150783249	HL-60	blood:	n/a
29	chr7:150783413-150783463	BE2_C	brain:	n/a
30	chr7:150783132-150783182	GM12892	blood:	n/a
31	chr7:150783413-150783463	HepG2	liver:	n/a
32	chr7:150783409-150783459	BJ	skin:	n/a
33	chr7:150783199-150783249	SK-N-SH_RA	brain:	n/a
34	chr7:150783788-150783838	Jurkat	blood:	n/a
35	chr7:150783132-150783182	NHDF-neo	bronchial:	n/a
36	chr7:150783199-150783249	MCF10A-Er-Src	breast:	n/a
37	chr7:150783788-150783838	HL-60	blood:	n/a
38	chr7:150783788-150783838	NT2-D1	testis:	n/a
39	chr7:150783881-150783931	A549	lung:	n/a
40	chr7:150783788-150783838	NH-A	brain:	n/a
41	chr7:150784390-150784440	AoSMC	blood vessel:	n/a
42	chr7:150783788-150783838	Hela-S3	cervix:	n/a
43	chr7:150783881-150783931	PrEC	prostate:	n/a
44	chr7:150783791-150783841	MCF10A-Er-Src	breast:	n/a
45	chr7:150783791-150783841	BJ	skin:	n/a
46	chr7:150784390-150784440	A549	lung:	n/a
47	chr7:150783791-150783841	HCF	heart:	n/a
48	chr7:150783791-150783841	T-47D	breast:	n/a
49	chr7:150783132-150783182	PrEC	prostate:	n/a
50	chr7:150783219-150783269	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150784397..150785064-chr7:150807380..150808355,2	MCF-7	breast:
2	chr15:93352480..93353377-chr7:150783290..150783836,2	Hela-S3	cervix:
3	chr7:150781128..150782793-chr7:150928748..150931080,2	MCF-7	breast:
4	chr7:150781876..150784323-chr8:125460204..125463130,2	MCF-7	breast:
5	chr17:2239559..2240266-chr7:150782649..150783588,2	HCT-116	colon:
6	chr7:150784550..150785319-chr7:150808021..150808851,2	MCF-7	breast:
7	chr7:150651843..150653881-chr7:150784068..150785698,2	MCF-7	breast:
8	chr7:150756252..150756892-chr7:150783335..150784303,2	MCF-7	breast:
9	chr2:176970818..176972344-chr7:150783415..150786147,2	MCF-7	breast:
10	chr10:112631125..112631745-chr7:150782860..150783599,2	NB4	blood:
11	chr1:155049689..155051785-chr7:150780053..150782856,2	MCF-7	breast:

Variant related genes	Relation type
FASTK	TF binding region
AGAP3	TF binding region
TMUB1	TF binding region
FASTK	CpG island
AGAP3	CpG island
TMUB1	CpG island
ENSG00000167721	chromatin interactions
ENSG00000183665	chromatin interactions
ENSG00000150593	chromatin interactions
ENSG00000128713	chromatin interactions
ENSG00000164889	chromatin interactions
ENSG00000033100	chromatin interactions
ENSG00000185442	chromatin interactions
ENSG00000055118	chromatin interactions
ENSG00000143590	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377739976	chr7:150782814-150782815	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs115336154	chr7:150782822-150782823	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs370985087	chr7:150782831-150782832	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs35436508	chr7:150782882-150782883	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs114058602	chr7:150782884-150782885	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs549338085	chr7:150782887-150782888	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs565627989	chr7:150782972-150782973	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs150472213	chr7:150782979-150782980	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs551427775	chr7:150783102-150783103	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs72617352	chr7:150783103-150783104	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs192682642	chr7:150783157-150783158	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs544029240	chr7:150783308-150783309	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs569960432	chr7:150783375-150783376	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs546193441	chr7:150783381-150783382	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs535739189	chr7:150783402-150783403	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs570588152	chr7:150783757-150783758	Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs539642617	chr7:150783900-150783901	Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs555651682	chr7:150783903-150783904	Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs572361798	chr7:150783906-150783907	Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs552859803	chr7:150783908-150783909	Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs200151243	chr7:150784001-150784002	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs138322898	chr7:150784028-150784029	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs372547043	chr7:150784062-150784063	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs377473558	chr7:150784177-150784178	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs201792217	chr7:150784201-150784202	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs543963076	chr7:150784260-150784261	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs563462789	chr7:150784262-150784263	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs573888860	chr7:150784263-150784264	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs542896542	chr7:150784265-150784266	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs200033574	chr7:150784268-150784269	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs113913785	chr7:150784317-150784318	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs528052532	chr7:150784337-150784338	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs551071579	chr7:150784347-150784348	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs532461574	chr7:150784356-150784357	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs13239507	chr7:150784407-150784408	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs143884057	chr7:150784410-150784411	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs550303251	chr7:150784443-150784444	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs569877152	chr7:150784447-150784448	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs535658934	chr7:150784454-150784455	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs549626189	chr7:150784499-150784500	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs13225215	chr7:150784513-150784514	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs115514003	chr7:150784515-150784516	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs115053116	chr7:150784546-150784547	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs578006616	chr7:150784602-150784603	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs373959574	chr7:150784640-150784641	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs368405606	chr7:150784680-150784681	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs371980440	chr7:150784681-150784682	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs6945151	chr7:150784737-150784738	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs559530787	chr7:150784747-150784748	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs573028932	chr7:150784811-150784812	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150780800-150782800	Weak transcription	Aorta	Aorta
2	chr7:150781000-150783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:150781000-150783000	Enhancers	Fetal Heart	heart
4	chr7:150781200-150782800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr7:150781200-150782800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr7:150781200-150782800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr7:150781200-150782800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr7:150781200-150782800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:150781200-150782800	Enhancers	Liver	Liver
10	chr7:150781200-150782800	Weak transcription	Psoas Muscle	Psoas
11	chr7:150781200-150782800	Weak transcription	NH-A	brain
12	chr7:150781200-150782800	Weak transcription	NHEK	skin
13	chr7:150782000-150782800	Enhancers	Fetal Intestine Small	intestine
14	chr7:150782000-150782800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr7:150782000-150783000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:150782200-150782800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:150782200-150782800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:150782200-150782800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr7:150782200-150782800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr7:150782200-150782800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:150782200-150783000	Flanking Active TSS	Hela-S3	cervix
22	chr7:150782200-150783200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:150782200-150783200	Enhancers	Stomach Mucosa	stomach
24	chr7:150782200-150783200	Flanking Active TSS	K562	blood
25	chr7:150782200-150783400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:150782400-150782800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:150782400-150782800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
28	chr7:150782400-150782800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
29	chr7:150782400-150782800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
30	chr7:150782400-150782800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr7:150782400-150782800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:150782400-150782800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:150782400-150782800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:150782400-150782800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr7:150782400-150782800	Bivalent Enhancer	Primary T cells from cord blood	blood
36	chr7:150782400-150782800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr7:150782400-150782800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
38	chr7:150782400-150782800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:150782400-150782800	Enhancers	Brain Angular Gyrus	brain
40	chr7:150782400-150782800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr7:150782400-150782800	Enhancers	Brain Substantia Nigra	brain
42	chr7:150782400-150782800	Bivalent Enhancer	Fetal Thymus	thymus
43	chr7:150782400-150782800	Enhancers	Left Ventricle	heart
44	chr7:150782400-150782800	Enhancers	Pancreas	Pancrea
45	chr7:150782400-150782800	Enhancers	Right Atrium	heart
46	chr7:150782400-150782800	Enhancers	Spleen	Spleen
47	chr7:150782400-150782800	Enhancers	HMEC	breast
48	chr7:150782400-150782800	Enhancers	HUVEC	blood vessel
49	chr7:150782400-150783000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:150782400-150783000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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