Variant report

Variant	esv3403100
Chromosome Location	chr7:150972819-150975817
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	chr7:150974271-150974336	K562	blood:	n/a	n/a
2	BHLHE40	chr7:150974243-150974589	K562	blood:	n/a	n/a
3	CBX3	chr7:150974161-150974766	K562	blood:	n/a	n/a
4	CCNT2	chr7:150974070-150974376	K562	blood:	n/a	n/a
5	CEBPB	chr7:150975535-150975867	K562	blood:	n/a	chr7:150975689-150975700
6	CEBPB	chr7:150975572-150975774	HepG2	liver:	n/a	chr7:150975689-150975700
7	CEBPB	chr7:150975598-150975868	A549	lung:	n/a	chr7:150975689-150975700
8	CEBPB	chr7:150974232-150974476	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr7:150973357-150973617	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr7:150975612-150975851	IMR90	lung:	n/a	chr7:150975689-150975700
11	CHD2	chr7:150974277-150974287	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr7:150973480-150973492	Hela-S3	cervix:	n/a	n/a
13	CREB1	chr7:150974056-150974510	A549	lung:	n/a	n/a
14	CTCF	chr7:150974906-150974946	GM13976	blood:	n/a	n/a
15	CTCF	chr7:150975095-150975186	H1-hESC	embryonic stem cell:	n/a	n/a
16	CUX1	chr7:150974485-150974518	K562	blood:	n/a	n/a
17	E2F4	chr7:150974311-150974444	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F6	chr7:150974114-150974621	K562	blood:	n/a	chr7:150974230-150974239 chr7:150974227-150974237
19	EGR1	chr7:150974133-150974376	GM12878	blood:	n/a	chr7:150974251-150974264 chr7:150974230-150974239 chr7:150974252-150974266
20	EGR1	chr7:150973955-150974783	HCT-116	colon:	n/a	chr7:150974639-150974654 chr7:150974251-150974264 chr7:150974640-150974653 chr7:150974230-150974239 chr7:150974252-150974266
21	EGR1	chr7:150974034-150974552	ECC-1	luminal epithelium:	n/a	chr7:150974251-150974264 chr7:150974230-150974239 chr7:150974252-150974266
22	EGR1	chr7:150974054-150974481	ECC-1	luminal epithelium:	n/a	chr7:150974251-150974264 chr7:150974230-150974239 chr7:150974252-150974266
23	EGR1	chr7:150974048-150974624	K562	blood:	n/a	chr7:150974251-150974264 chr7:150974230-150974239 chr7:150974252-150974266
24	EGR1	chr7:150974142-150974350	GM12878	blood:	n/a	chr7:150974251-150974264 chr7:150974230-150974239 chr7:150974252-150974266
25	EGR1	chr7:150973967-150974710	HCT-116	colon:	n/a	chr7:150974639-150974654 chr7:150974251-150974264 chr7:150974640-150974653 chr7:150974230-150974239 chr7:150974252-150974266
26	EGR1	chr7:150974033-150974790	K562	blood:	n/a	chr7:150974639-150974654 chr7:150974251-150974264 chr7:150974640-150974653 chr7:150974230-150974239 chr7:150974252-150974266
27	EGR1	chr7:150974015-150974519	H1-hESC	embryonic stem cell:	n/a	chr7:150974251-150974264 chr7:150974230-150974239 chr7:150974252-150974266
28	EGR1	chr7:150974038-150974523	MCF-7	breast:	n/a	chr7:150974251-150974264 chr7:150974230-150974239 chr7:150974252-150974266
29	ELF1	chr7:150974146-150974602	K562	blood:	n/a	n/a
30	ELF1	chr7:150974150-150974439	HepG2	liver:	n/a	n/a
31	ELF1	chr7:150974139-150974492	GM12878	blood:	n/a	n/a
32	ELF1	chr7:150974234-150974520	A549	lung:	n/a	n/a
33	ELF1	chr7:150974156-150974683	K562	blood:	n/a	n/a
34	ELF1	chr7:150974189-150974367	HepG2	liver:	n/a	n/a
35	ELF1	chr7:150974030-150974668	MCF-7	breast:	n/a	n/a
36	ELF1	chr7:150974015-150974620	GM12878	blood:	n/a	n/a
37	ETS1	chr7:150974029-150974532	K562	blood:	n/a	chr7:150974134-150974145 chr7:150974254-150974265
38	FAM48A	chr7:150974191-150974482	GM12878	blood:	n/a	n/a
39	FAM48A	chr7:150974126-150974507	Hela-S3	cervix:	n/a	n/a
40	FOXP2	chr7:150974133-150974625	PFSK-1	brain:	n/a	n/a
41	GABPA	chr7:150974025-150974543	H1-hESC	embryonic stem cell:	n/a	chr7:150974226-150974240
42	GTF2F1	chr7:150974278-150974478	H1-hESC	embryonic stem cell:	n/a	n/a
43	GTF2F1	chr7:150974302-150974384	Hela-S3	cervix:	n/a	n/a
44	HCFC1	chr7:150974219-150974358	K562	blood:	n/a	n/a
45	HMGN3	chr7:150974183-150974513	K562	blood:	n/a	n/a
46	IRF3	chr7:150974150-150974488	Hela-S3	cervix:	n/a	n/a
47	JUND	chr7:150973514-150973528	H1-hESC	embryonic stem cell:	n/a	n/a
48	JUND	chr7:150974281-150974427	K562	blood:	n/a	n/a
49	KAP1	chr7:150974277-150974659	U2OS	brain:	n/a	n/a
50	KAP1	chr7:150974177-150974701	HEK293	kidney:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150974273-150974323	SKMC	muscle:	n/a
2	chr7:150974273-150974323	SKMC	muscle:	n/a
3	chr7:150974371-150974421	PANC-1	pancreas:	n/a
4	chr7:150974464-150974514	T-47D	breast:	n/a
5	chr7:150974374-150974424	HCM	heart:	n/a
6	chr7:150974453-150974503	HUVEC	blood vessel:	n/a
7	chr7:150974374-150974424	LNCaP	prostate:	n/a
8	chr7:150974391-150974441	U87	brain:	n/a
9	chr7:150974464-150974514	RPTEC	kidney:	n/a
10	chr7:150974464-150974514	HCT-116	colon:	n/a
11	chr7:150974371-150974421	AG04449	skin:	fetal
12	chr7:150974374-150974424	MCF10A-Er-Src	breast:	n/a
13	chr7:150974464-150974514	MCF-7	breast:	n/a
14	chr7:150974273-150974323	Jurkat	blood:	n/a
15	chr7:150974554-150974604	NH-A	brain:	n/a
16	chr7:150974464-150974514	NT2-D1	testis:	n/a
17	chr7:150974273-150974323	BJ	skin:	n/a
18	chr7:150974453-150974503	HIPEpiC	eye:	n/a
19	chr7:150974453-150974503	SK-N-SH	brain:	n/a
20	chr7:150974374-150974424	HEK293	kidney:	embryo
21	chr7:150974273-150974323	A549	lung:	n/a
22	chr7:150974554-150974604	NHDF-neo	bronchial:	n/a
23	chr7:150974374-150974424	HIPEpiC	eye:	n/a
24	chr7:150974464-150974514	HRCEpiC	kidney:	n/a
25	chr7:150974554-150974604	GM19239	blood:	n/a
26	chr7:150974453-150974503	BJ	skin:	n/a
27	chr7:150974391-150974441	IMR90	lung:	fetal
28	chr7:150974391-150974441	GM12892	blood:	n/a
29	chr7:150974391-150974441	CMK	blood:	n/a
30	chr7:150974464-150974514	HCPEpiC	choroid plexus:	n/a
31	chr7:150974273-150974323	U87	brain:	n/a
32	chr7:150974374-150974424	HCF	heart:	n/a
33	chr7:150974371-150974421	MCF10A-Er-Src	breast:	n/a
34	chr7:150974273-150974323	GM19239	blood:	n/a
35	chr7:150974554-150974604	SK-N-MC	brain:	n/a
36	chr7:150974554-150974604	BE2_C	brain:	n/a
37	chr7:150974374-150974424	HRCEpiC	kidney:	n/a
38	chr7:150974391-150974441	AG04450	lung:	fetal
39	chr7:150974273-150974323	HRPEpiC	eye:	n/a
40	chr7:150974273-150974323	MCF-7	breast:	n/a
41	chr7:150974374-150974424	HPAEpiC	pulmonary alveolar:	n/a
42	chr7:150974374-150974424	HCT-116	colon:	n/a
43	chr7:150974374-150974424	BJ	skin:	n/a
44	chr7:150974371-150974421	HNPCEpiC	eye:	n/a
45	chr7:150974554-150974604	HRE	kidney:	n/a
46	chr7:150974371-150974421	Jurkat	blood:	n/a
47	chr7:150974464-150974514	HCM	heart:	n/a
48	chr7:150974554-150974604	PrEC	prostate:	n/a
49	chr7:150974374-150974424	HepG2	liver:	n/a
50	chr7:150974554-150974604	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150922541..150925891-chr7:150969834..150974111,4	K562	blood:
2	chr7:150941689..150943266-chr7:150971664..150974365,2	K562	blood:
3	chr7:150971574..150973333-chr7:151038730..151040359,2	K562	blood:
4	chr7:150809552..150813512-chr7:150971172..150974114,3	MCF-7	breast:
5	chr7:150944159..150946342-chr7:150972887..150975150,2	MCF-7	breast:
6	chr7:150972599..150974856-chr7:151038814..151040776,2	MCF-7	breast:
7	chr7:150971574..150974411-chr7:151038667..151040359,3	K562	blood:

Variant related genes	Relation type
SMARCD3	TF binding region
SMARCD3	CpG island
ENSG00000013374	chromatin interactions
ENSG00000033050	chromatin interactions
ENSG00000082014	chromatin interactions
ENSG00000133612	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548029819	chr7:150972839-150972840	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs571061923	chr7:150972889-150972890	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs2072296	chr7:150972917-150972918	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2072295	chr7:150972944-150972945	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2792438	chr7:150972987-150972988	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535579341	chr7:150972989-150972990	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs559883093	chr7:150973128-150973129	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs555266366	chr7:150973137-150973138	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs57667546	chr7:150973142-150973143	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs371023822	chr7:150973148-150973149	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs534525361	chr7:150973160-150973161	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs557983448	chr7:150973182-150973183	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs578014910	chr7:150973211-150973212	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs537008999	chr7:150973224-150973225	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs557030312	chr7:150973225-150973226	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs570584687	chr7:150973231-150973232	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs201734071	chr7:150973237-150973238	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs151205712	chr7:150973257-150973258	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs531709585	chr7:150973291-150973292	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs548611769	chr7:150973305-150973306	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs183353127	chr7:150973376-150973377	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs188760328	chr7:150973380-150973381	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs571734146	chr7:150973440-150973441	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs527903678	chr7:150973474-150973475	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs563501499	chr7:150973516-150973517	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs541288989	chr7:150973547-150973548	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs564769461	chr7:150973557-150973558	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs533482078	chr7:150973564-150973565	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs549745205	chr7:150973565-150973566	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs563385834	chr7:150973582-150973583	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs531657486	chr7:150973591-150973592	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs529335134	chr7:150973601-150973602	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs547658878	chr7:150973610-150973611	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs549415283	chr7:150973697-150973698	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs191948845	chr7:150973707-150973708	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs219239	chr7:150973730-150973731	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs549786901	chr7:150973747-150973748	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs566042712	chr7:150973755-150973756	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs534788289	chr7:150973763-150973764	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs140338107	chr7:150973770-150973771	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs183419928	chr7:150973779-150973780	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs537389714	chr7:150973895-150973896	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs556987317	chr7:150973913-150973914	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs145591096	chr7:150973935-150973936	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs146512661	chr7:150973986-150973987	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs187789485	chr7:150974061-150974062	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs572870050	chr7:150974111-150974112	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs541600939	chr7:150974138-150974139	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs564370360	chr7:150974210-150974211	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs191092926	chr7:150974265-150974266	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150950400-150973400	Weak transcription	Brain Substantia Nigra	brain
2	chr7:150960200-150973200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:150967400-150973000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr7:150968000-150974000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:150968200-150973800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr7:150968400-150973200	Weak transcription	Brain Angular Gyrus	brain
7	chr7:150969000-150973000	Enhancers	Fetal Brain Male	brain
8	chr7:150969000-150973400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:150969200-150973200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:150969600-150973000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:150969600-150973000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:150969600-150973200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:150969600-150973200	Weak transcription	Hela-S3	cervix
14	chr7:150969800-150973000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:150970000-150973000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:150970000-150973200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:150970000-150973400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:150970000-150974200	Weak transcription	Primary T cells from cord blood	blood
19	chr7:150970200-150973000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:150970200-150973400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:150970400-150973400	Weak transcription	Adipose Nuclei	Adipose
22	chr7:150970600-150974000	Weak transcription	Left Ventricle	heart
23	chr7:150970800-150975000	Enhancers	Spleen	Spleen
24	chr7:150971400-150973200	Weak transcription	Fetal Heart	heart
25	chr7:150971600-150973000	Weak transcription	Lung	lung
26	chr7:150971600-150973200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:150971600-150973200	Enhancers	Pancreas	Pancrea
28	chr7:150971600-150973800	Weak transcription	Right Atrium	heart
29	chr7:150971800-150973000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:150972000-150973000	Enhancers	Brain Cingulate Gyrus	brain
31	chr7:150972000-150973000	Enhancers	Brain Germinal Matrix	brain
32	chr7:150972000-150973400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:150972200-150973200	Enhancers	Stomach Smooth Muscle	stomach
34	chr7:150972200-150973600	Flanking Active TSS	Fetal Brain Female	brain
35	chr7:150972400-150973200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:150972400-150973400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:150972400-150973800	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr7:150972600-150973000	Enhancers	Fetal Stomach	stomach
39	chr7:150972600-150973200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:150972600-150973200	Enhancers	Liver	Liver
41	chr7:150972600-150973200	Enhancers	Brain Hippocampus Middle	brain
42	chr7:150972600-150973200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
43	chr7:150972600-150973400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr7:150972600-150973400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr7:150972600-150973600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:150972600-150973600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr7:150972600-150973800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:150972600-150974000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:150972600-150974200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr7:150972800-150973000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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