Variant report

Variant	nsv523930
Chromosome Location	chr7:150822192-150830015
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	ATF2	chr7:150822627-150822937	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD1	chr7:150822630-150822999	H1-hESC	embryonic stem cell:	n/a	chr7:150822688-150822698 chr7:150822827-150822837
3	CHD2	chr7:150822682-150823016	H1-hESC	embryonic stem cell:	n/a	chr7:150822688-150822698 chr7:150822827-150822837
4	CTBP2	chr7:150822445-150823067	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr7:150822509-150822779	Pancreas_OC	pancreas:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
6	CTCF	chr7:150822580-150822730	NHDF-neo	bronchial:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
7	CTCF	chr7:150822500-150822790	NHEK	skin:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
8	CTCF	chr7:150822540-150822690	HCM	heart:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
9	CTCF	chr7:150822580-150822730	AG09309	skin:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
10	CTCF	chr7:150822540-150822690	HUVEC	blood vessel:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
11	CTCF	chr7:150822580-150822730	AG04450	lung:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
12	CTCF	chr7:150822520-150822670	SAEC	small airway:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
13	CTCF	chr7:150822540-150822690	HPF	lung:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
14	CTCF	chr7:150822553-150822698	MCF-7	breast:	n/a	chr7:150822591-150822604 chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601
15	CTCF	chr7:150822580-150822730	BJ	skin:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
16	CTCF	chr7:150822600-150822750	HVMF	connective:	n/a	n/a
17	CTCF	chr7:150822540-150822690	HMF	breast:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
18	CTCF	chr7:150822540-150822690	SAEC	small airway:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
19	CTCF	chr7:150822620-150822770	BJ	skin:	n/a	n/a
20	CTCF	chr7:150822500-150822650	HRE	kidney:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
21	CTCF	chr7:150822521-150822775	H1-hESC	embryonic stem cell:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
22	CTCF	chr7:150822540-150822690	HCFaa	heart:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
23	CTCF	chr7:150822580-150822730	HRE	kidney:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
24	CTCF	chr7:150822560-150822710	AG09319	gingival:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
25	CTCF	chr7:150822520-150822670	HPF	lung:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
26	CTCF	chr7:150822520-150822670	GM12871	blood:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
27	CTCF	chr7:150822700-150822850	HCM	heart:	n/a	n/a
28	CTCF	chr7:150822560-150822710	HBMEC	blood vessel:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
29	CTCF	chr7:150822600-150822750	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr7:150822580-150822730	AG04449	skin:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
31	CTCF	chr7:150822408-150823022	H1-hESC	embryonic stem cell:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
32	CTCF	chr7:150822566-150822677	LNCaP	prostate:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
33	CTCF	chr7:150822385-150822910	H1-hESC	embryonic stem cell:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
34	CTCF	chr7:150822560-150822710	HVMF	connective:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
35	CTCF	chr7:150822500-150822650	HEK293	kidney:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
36	CTCF	chr7:150822540-150822690	HFF-Myc	foreskin:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
37	CTCF	chr7:150823200-150823350	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr7:150822560-150822710	HMF	breast:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
39	CTCF	chr7:150822560-150822710	SK-N-SH_RA	brain:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
40	CTCF	chr7:150822580-150822730	AG10803	skin:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
41	CTCF	chr7:150822560-150822710	HFF	foreskin:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
42	CTCF	chr7:150822480-150822630	HCM	heart:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
43	CTCF	chr7:150822440-150822590	AG09319	gingival:	n/a	n/a
44	CTCF	chr7:150822460-150822610	HAc	cerebellar:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
45	CTCF	chr7:150822620-150822770	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr7:150822558-150822741	NHEK	skin:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
47	CTCF	chr7:150822560-150822710	HepG2	liver:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
48	CTCF	chr7:150822580-150822730	WI-38	lung:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
49	CTCF	chr7:150822560-150822710	HA-sp	spinal cord:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
50	CTCF	chr7:150822360-150822510	HEEpiC	esophagus:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150822902-150822952	HL-60	blood:	n/a
2	chr7:150828577-150828627	SAEC	small airway:	n/a
3	chr7:150822902-150822952	HL-60	blood:	n/a
4	chr7:150828577-150828627	SAEC	small airway:	n/a
5	chr7:150822987-150823037	CMK	blood:	n/a
6	chr7:150828103-150828153	BJ	skin:	n/a
7	chr7:150822655-150822705	NT2-D1	testis:	n/a
8	chr7:150828561-150828611	CMK	blood:	n/a
9	chr7:150823386-150823436	PANC-1	pancreas:	n/a
10	chr7:150828577-150828627	SK-N-MC	brain:	n/a
11	chr7:150828583-150828633	HCM	heart:	n/a
12	chr7:150828577-150828627	A549	lung:	n/a
13	chr7:150827897-150827947	SK-N-SH	brain:	n/a
14	chr7:150822902-150822952	SK-N-SH	brain:	n/a
15	chr7:150827897-150827947	HCT-116	colon:	n/a
16	chr7:150827298-150827348	HL-60	blood:	n/a
17	chr7:150828561-150828611	NH-A	brain:	n/a
18	chr7:150828577-150828627	GM12878	blood:	n/a
19	chr7:150827298-150827348	NH-A	brain:	n/a
20	chr7:150827897-150827947	Caco-2	colon:	n/a
21	chr7:150828271-150828321	GM12891	blood:	n/a
22	chr7:150822902-150822952	HCPEpiC	choroid plexus:	n/a
23	chr7:150828577-150828627	AG10803	skin:	n/a
24	chr7:150823386-150823436	HCF	heart:	n/a
25	chr7:150828583-150828633	ovcar-3	ovarian:	n/a
26	chr7:150823386-150823436	BJ	skin:	n/a
27	chr7:150827880-150827930	AG09309	skin:	n/a
28	chr7:150828583-150828633	MCF-7	breast:	n/a
29	chr7:150827880-150827930	HCPEpiC	choroid plexus:	n/a
30	chr7:150823386-150823436	A549	lung:	n/a
31	chr7:150823386-150823436	Jurkat	blood:	n/a
32	chr7:150828583-150828633	GM19239	blood:	n/a
33	chr7:150822902-150822952	HCT-116	colon:	n/a
34	chr7:150824021-150824071	CMK	blood:	n/a
35	chr7:150827880-150827930	HEEpiC	esophagus:	n/a
36	chr7:150828271-150828321	AG09319	gingival:	n/a
37	chr7:150828103-150828153	Hepatocyte	liver:	n/a
38	chr7:150824021-150824071	NB4	blood:	n/a
39	chr7:150828103-150828153	AG04450	lung:	fetal
40	chr7:150823386-150823436	HIPEpiC	eye:	n/a
41	chr7:150827298-150827348	A549	lung:	n/a
42	chr7:150822902-150822952	HRCEpiC	kidney:	n/a
43	chr7:150828561-150828611	HEK293	kidney:	embryo
44	chr7:150827880-150827930	GM19239	blood:	n/a
45	chr7:150828561-150828611	AG04449	skin:	fetal
46	chr7:150827897-150827947	HUVEC	blood vessel:	n/a
47	chr7:150824021-150824071	ProgFib	skin:	n/a
48	chr7:150827880-150827930	ECC-1	luminal epithelium:	n/a
49	chr7:150827880-150827930	GM12891	blood:	n/a
50	chr7:150823386-150823436	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150812170..150814397-chr7:150827943..150830843,2	MCF-7	breast:
2	chr7:150820949..150822720-chr7:150827782..150829322,2	MCF-7	breast:
3	chr7:150820141..150822604-chr7:150863393..150866266,2	MCF-7	breast:
4	chr7:150818782..150822666-chr7:150823705..150827002,4	MCF-7	breast:
5	chr7:150821781..150824555-chr7:150874826..150877607,2	K562	blood:
6	chr7:150820727..150822566-chr7:150869328..150870314,21	MCF-7	breast:
7	chr7:150825310..150827714-chr7:151037547..151039688,2	K562	blood:
8	chr7:150823122..150823820-chr7:150869370..150869890,2	K562	blood:
9	chr7:150825773..150828116-chr7:150828450..150830574,2	MCF-7	breast:
10	chr7:150817194..150819802-chr7:150827702..150830037,3	MCF-7	breast:
11	chr7:150822023..150822998-chr7:151000299..151001077,2	MCF-7	breast:
12	chr7:150820949..150822720-chr7:150827782..150829322,2	MCF-7	breast:
13	chr7:150822692..150823787-chr7:150869509..150870193,3	MCF-7	breast:
14	chr7:150821997..150823437-chr7:150869432..150870307,6	MCF-7	breast:
15	chr7:150823153..150825845-chr7:150864127..150866768,5	MCF-7	breast:
16	chr7:150822703..150826182-chr7:150829371..150831194,4	MCF-7	breast:
17	chr7:150819780..150822617-chr7:150940406..150943194,3	MCF-7	breast:
18	chr7:150825773..150828116-chr7:150828450..150830574,2	MCF-7	breast:
19	chr7:150818782..150822666-chr7:150823705..150827002,4	MCF-7	breast:

Variant related genes	Relation type
AGAP3	TF binding region
AGAP3	CpG island
ENSG00000133612	chromatin interactions
ENSG00000082014	chromatin interactions
ENSG00000164900	chromatin interactions
ENSG00000013374	chromatin interactions

Extended variants
information (count: 324 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs729712	chr7:150822192-150822193	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574812662	chr7:150822195-150822196	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs574589457	chr7:150822206-150822207	Bivalent Enhancer Genic enhancers Enhancers Strong transcription 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
4	rs541594788	chr7:150822214-150822215	Bivalent Enhancer Genic enhancers Enhancers Strong transcription 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
5	rs557842224	chr7:150822229-150822230	Bivalent Enhancer Genic enhancers Enhancers Strong transcription 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
6	rs577950715	chr7:150822244-150822245	Bivalent Enhancer Genic enhancers Enhancers Strong transcription 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
7	rs34251580	chr7:150822296-150822297	Bivalent Enhancer Genic enhancers Enhancers Strong transcription 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
8	rs729711	chr7:150822326-150822327	Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh 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
9	rs373391629	chr7:150822327-150822328	Bivalent Enhancer Genic enhancers Enhancers Strong transcription 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
10	rs574094901	chr7:150822337-150822338	Bivalent Enhancer Genic enhancers Enhancers Strong transcription 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
11	rs189008294	chr7:150822355-150822356	Bivalent Enhancer Genic enhancers Enhancers Strong transcription 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
12	rs542365108	chr7:150822399-150822400	Bivalent Enhancer Genic enhancers Enhancers Strong transcription 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
13	rs729710	chr7:150822445-150822446	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78017810	chr7:150822451-150822452	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs544924634	chr7:150822453-150822454	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs138902921	chr7:150822500-150822501	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs538379072	chr7:150822501-150822502	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs145770735	chr7:150822534-150822535	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs530518917	chr7:150822538-150822539	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs550352880	chr7:150822548-150822549	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs560993950	chr7:150822565-150822566	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs529825750	chr7:150822599-150822600	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs549566213	chr7:150822608-150822609	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs566301439	chr7:150822617-150822618	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs563742413	chr7:150822625-150822626	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs552032781	chr7:150822630-150822631	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs6464131	chr7:150822659-150822660	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs116473447	chr7:150822691-150822692	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs181492505	chr7:150822704-150822705	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs545123507	chr7:150822708-150822709	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs138494945	chr7:150822744-150822745	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs571648565	chr7:150822749-150822750	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs573755459	chr7:150822752-150822753	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs531415742	chr7:150822754-150822755	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs10232511	chr7:150822765-150822766	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572679347	chr7:150822897-150822898	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs186179856	chr7:150822904-150822905	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs565183649	chr7:150823039-150823040	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs374492630	chr7:150823113-150823114	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs75958110	chr7:150823139-150823140	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs142756113	chr7:150823143-150823144	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs71196738	chr7:150823151-150823152	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs544156477	chr7:150823165-150823166	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs533918823	chr7:150823175-150823176	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs201287033	chr7:150823228-150823229	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs527467046	chr7:150823254-150823255	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs62489625	chr7:150823289-150823290	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529788800	chr7:150823312-150823313	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs541567355	chr7:150823362-150823363	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs200528825	chr7:150823367-150823368	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:648 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150812400-150829600	Weak transcription	Small Intestine	intestine
2	chr7:150812600-150839800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:150812800-150822400	Weak transcription	Psoas Muscle	Psoas
4	chr7:150813000-150822400	Strong transcription	NHLF	lung
5	chr7:150813000-150840400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:150813000-150843800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:150813200-150822200	Weak transcription	Right Atrium	heart
8	chr7:150813400-150822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:150813600-150822200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:150813600-150822400	Strong transcription	Fetal Brain Female	brain
11	chr7:150813600-150822400	Strong transcription	Fetal Intestine Small	intestine
12	chr7:150813600-150822600	Strong transcription	Liver	Liver
13	chr7:150814000-150822200	Strong transcription	Lung	lung
14	chr7:150814000-150828600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:150814000-150842600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:150814200-150822200	Strong transcription	Brain Germinal Matrix	brain
17	chr7:150814200-150822600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr7:150814200-150839800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:150814400-150822200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:150814400-150822200	Strong transcription	Adipose Nuclei	Adipose
21	chr7:150814400-150822200	Strong transcription	Gastric	stomach
22	chr7:150814400-150822400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:150814600-150822800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr7:150814600-150825000	Weak transcription	Thymus	Thymus
25	chr7:150814800-150825200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:150814800-150839800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:150815000-150823000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:150815200-150822400	Strong transcription	Ovary	ovary
29	chr7:150815600-150833600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:150815600-150843400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:150816000-150822400	Strong transcription	Spleen	Spleen
32	chr7:150816200-150844000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:150817600-150822200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:150817800-150822200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:150818000-150822200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:150818200-150822200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:150818400-150826600	Weak transcription	HSMMtube	muscle
38	chr7:150819000-150822200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:150819000-150822600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:150819200-150822800	Weak transcription	Aorta	Aorta
41	chr7:150819400-150822200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:150819400-150822200	Weak transcription	Left Ventricle	heart
43	chr7:150819400-150827600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:150819600-150822600	Strong transcription	Brain Hippocampus Middle	brain
45	chr7:150820000-150822200	Strong transcription	Fetal Intestine Large	intestine
46	chr7:150820200-150822200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr7:150820200-150822800	Strong transcription	A549	lung
48	chr7:150820400-150822200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr7:150820400-150822400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:150820400-150822400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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