Variant report

Variant	esv3375220
Chromosome Location	chr7:100080241-100082789
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	chr7:100080934-100081031	K562	blood:	n/a	n/a
2	ATF2	chr7:100080802-100081303	GM12878	blood:	n/a	n/a
3	ATF3	chr7:100080844-100081366	K562	blood:	n/a	chr7:100080958-100080967
4	BACH1	chr7:100080815-100080819	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr7:100081081-100081384	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr7:100080720-100081268	GM12878	blood:	n/a	chr7:100081081-100081094 chr7:100081044-100081057 chr7:100081087-100081100
7	BHLHE40	chr7:100080604-100081327	K562	blood:	n/a	chr7:100081090-100081106 chr7:100081079-100081095 chr7:100080993-100081009 chr7:100081082-100081098
8	BHLHE40	chr7:100080882-100081158	HepG2	liver:	n/a	chr7:100081090-100081106 chr7:100081079-100081095 chr7:100080993-100081009 chr7:100081082-100081098
9	BHLHE40	chr7:100080678-100081297	GM12878	blood:	n/a	chr7:100081090-100081106 chr7:100081079-100081095 chr7:100080993-100081009 chr7:100081082-100081098
10	BRCA1	chr7:100080950-100081017	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr7:100080277-100081151	K562	blood:	n/a	n/a
12	CCNT2	chr7:100080741-100081376	K562	blood:	n/a	n/a
13	CEBPB	chr7:100080963-100081157	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr7:100080894-100081254	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr7:100080491-100081139	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr7:100080816-100081117	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr7:100080826-100081239	GM12878	blood:	n/a	n/a
18	CREB1	chr7:100081434-100081796	A549	lung:	n/a	n/a
19	CREB1	chr7:100080743-100081376	A549	lung:	n/a	n/a
20	CREB1	chr7:100080633-100081392	HepG2	liver:	n/a	n/a
21	CREB1	chr7:100080783-100081547	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr7:100080790-100081489	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTBP2	chr7:100080756-100081267	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr7:100080705-100081326	GM19240	blood:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
25	CTCF	chr7:100080960-100081110	HL-60	blood:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987
26	CTCF	chr7:100080940-100081090	HCPEpiC	choroid plexus:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987
27	CTCF	chr7:100080900-100081050	HUVEC	blood vessel:	n/a	chr7:100080980-100080989 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
28	CTCF	chr7:100080709-100081330	GM12891	blood:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
29	CTCF	chr7:100080693-100081335	GM12892	blood:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
30	CTCF	chr7:100080920-100081070	GM12874	blood:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
31	CTCF	chr7:100080940-100081090	HCFaa	heart:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987
32	CTCF	chr7:100080564-100081373	MCF-7	breast:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
33	CTCF	chr7:100080940-100081090	NB4	blood:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987
34	CTCF	chr7:100080852-100081306	GM13976	blood:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
35	CTCF	chr7:100080920-100081070	HUVEC	blood vessel:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
36	CTCF	chr7:100080920-100081070	HRPEpiC	eye:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
37	CTCF	chr7:100081000-100081150	HA-sp	spinal cord:	n/a	chr7:100081046-100081059 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061
38	CTCF	chr7:100080940-100081090	GM12866	blood:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987
39	CTCF	chr7:100080836-100081283	MCF-7	breast:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
40	CTCF	chr7:100080900-100081050	SAEC	small airway:	n/a	chr7:100080980-100080989 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
41	CTCF	chr7:100080940-100081090	WERI-Rb-1	eye:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987
42	CTCF	chr7:100080400-100080550	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr7:100080940-100081090	HBMEC	blood vessel:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987
44	CTCF	chr7:100080940-100081090	HEEpiC	esophagus:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987
45	CTCF	chr7:100081840-100081990	HCPEpiC	choroid plexus:	n/a	chr7:100081963-100081972
46	CTCF	chr7:100080920-100081070	GM06990	blood:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
47	CTCF	chr7:100080834-100081329	Fibrobl	skin:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
48	CTCF	chr7:100080980-100081130	HCM	heart:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061
49	CTCF	chr7:100080830-100081322	MCF-7	breast:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
50	CTCF	chr7:100080940-100081090	AG04450	lung:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100082322-100082372	HRE	kidney:	n/a
2	chr7:100081397-100081447	HEK293	kidney:	embryo
3	chr7:100082322-100082372	HRE	kidney:	n/a
4	chr7:100081397-100081447	HEK293	kidney:	embryo
5	chr7:100081329-100081379	AG09309	skin:	n/a
6	chr7:100082322-100082372	NHBE	bronchial:	n/a
7	chr7:100080771-100080821	AG04450	lung:	fetal
8	chr7:100080506-100080556	HL-60	blood:	n/a
9	chr7:100081329-100081379	AG04449	skin:	fetal
10	chr7:100080977-100081027	HUVEC	blood vessel:	n/a
11	chr7:100081535-100081585	MCF-7	breast:	n/a
12	chr7:100080586-100080636	GM12891	blood:	n/a
13	chr7:100081505-100081555	NB4	blood:	n/a
14	chr7:100080977-100081027	NHDF-neo	bronchial:	n/a
15	chr7:100081329-100081379	HEK293	kidney:	embryo
16	chr7:100081966-100082016	NHBE	bronchial:	n/a
17	chr7:100081505-100081555	SK-N-SH_RA	brain:	n/a
18	chr7:100081397-100081447	T-47D	breast:	n/a
19	chr7:100080970-100081020	HPAEpiC	pulmonary alveolar:	n/a
20	chr7:100081519-100081569	PANC-1	pancreas:	n/a
21	chr7:100080970-100081020	Caco-2	colon:	n/a
22	chr7:100080527-100080577	HEEpiC	esophagus:	n/a
23	chr7:100082322-100082372	HPAEpiC	pulmonary alveolar:	n/a
24	chr7:100080977-100081027	GM19239	blood:	n/a
25	chr7:100081397-100081447	Hepatocyte	liver:	n/a
26	chr7:100081505-100081555	HepG2	liver:	n/a
27	chr7:100081329-100081379	GM12878	blood:	n/a
28	chr7:100081519-100081569	HRE	kidney:	n/a
29	chr7:100082322-100082372	PANC-1	pancreas:	n/a
30	chr7:100080506-100080556	HNPCEpiC	eye:	n/a
31	chr7:100081358-100081408	NHDF-neo	bronchial:	n/a
32	chr7:100080970-100081020	HCT-116	colon:	n/a
33	chr7:100080527-100080577	GM12878	blood:	n/a
34	chr7:100081505-100081555	GM06990	blood:	n/a
35	chr7:100080970-100081020	K562	blood:	n/a
36	chr7:100080977-100081027	HRPEpiC	eye:	n/a
37	chr7:100081397-100081447	LNCaP	prostate:	n/a
38	chr7:100082322-100082372	GM12892	blood:	n/a
39	chr7:100080771-100080821	NHDF-neo	bronchial:	n/a
40	chr7:100081519-100081569	NHBE	bronchial:	n/a
41	chr7:100081966-100082016	HUVEC	blood vessel:	n/a
42	chr7:100080586-100080636	MCF10A-Er-Src	breast:	n/a
43	chr7:100081535-100081585	HCF	heart:	n/a
44	chr7:100081519-100081569	AG09319	gingival:	n/a
45	chr7:100080586-100080636	LNCaP	prostate:	n/a
46	chr7:100081397-100081447	HL-60	blood:	n/a
47	chr7:100081358-100081408	GM06990	blood:	n/a
48	chr7:100081966-100082016	HRCEpiC	kidney:	n/a
49	chr7:100081358-100081408	AG10803	skin:	n/a
50	chr7:100081358-100081408	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100079431..100084153-chr7:100084209..100089579,10	K562	blood:
2	chr7:100032559..100034120-chr7:100079176..100081080,2	K562	blood:
3	chr7:100080621..100081320-chr7:100157116..100157636,2	K562	blood:
4	chr7:100048219..100049829-chr7:100081555..100083506,2	K562	blood:
5	chr7:100024700..100032514-chr7:100067180..100083143,31	K562	blood:
6	chr7:100067781..100068777-chr7:100080651..100081281,2	MCF-7	breast:
7	chr7:100025812..100027550-chr7:100082592..100085700,3	K562	blood:
8	chr7:100022010..100030260-chr7:100068697..100082544,31	K562	blood:
9	chr7:100080717..100081322-chr7:100157208..100158077,2	MCF-7	breast:
10	chr7:100080608..100081659-chr7:100449704..100450291,3	K562	blood:
11	chr7:100080109..100082832-chr7:100180830..100183809,4	MCF-7	breast:
12	chr7:100081567..100083777-chr7:100163573..100165544,2	K562	blood:
13	chr7:100081136..100082649-chr7:100135146..100137776,2	K562	blood:
14	chr7:100080986..100083044-chr7:100224263..100226367,2	MCF-7	breast:
15	chr7:100073820..100078843-chr7:100079329..100083762,6	MCF-7	breast:
16	chr7:100080589..100081406-chr7:100142645..100143538,2	MCF-7	breast:
17	chr7:100081136..100082722-chr7:100136276..100137942,2	K562	blood:
18	chr7:99998039..99998786-chr7:100080764..100081310,2	MCF-7	breast:
19	chr7:100080616..100081207-chr7:100288772..100289584,2	MCF-7	breast:
20	chr7:100080695..100082892-chr7:100181914..100185450,4	MCF-7	breast:
21	chr7:100074425..100078694-chr7:100079448..100083758,11	K562	blood:
22	chr20:45925390..45926255-chr7:100080190..100081125,2	MCF-7	breast:
23	chr7:100078512..100081448-chr7:100177451..100180424,2	MCF-7	breast:
24	chr7:100080256..100081975-chr7:100135714..100137947,2	MCF-7	breast:
25	chr7:100080163..100084843-chr7:100085212..100090254,7	MCF-7	breast:
26	chr7:100080596..100081585-chr7:100136654..100137320,2	K562	blood:
27	chr7:100080681..100081238-chr7:100161312..100162144,2	MCF-7	breast:

Variant related genes	Relation type
NYAP1	TF binding region
TSC22D4	TF binding region
ENSG00000266372	TF binding region
NYAP1	CpG island
TSC22D4	CpG island
ENSG00000266372	CpG island
ENSG00000106327	chromatin interactions
ENSG00000106351	chromatin interactions
ENSG00000160813	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000077454	chromatin interactions
ENSG00000106336	chromatin interactions
ENSG00000166924	chromatin interactions
ENSG00000236305	chromatin interactions
ENSG00000240211	chromatin interactions
ENSG00000166925	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000241357	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183899358	chr7:100080264-100080265	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs561324344	chr7:100080287-100080288	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs527743336	chr7:100080325-100080326	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs369059874	chr7:100080383-100080384	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs60844404	chr7:100080474-100080475	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs537828237	chr7:100080492-100080493	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs35093409	chr7:100080529-100080530	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs148119921	chr7:100080592-100080593	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs569030332	chr7:100080601-100080602	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs187299289	chr7:100080635-100080636	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs557492279	chr7:100080636-100080637	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs571760962	chr7:100080649-100080650	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs139872322	chr7:100080661-100080662	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs190942986	chr7:100080672-100080673	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs141822658	chr7:100080674-100080675	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs13229812	chr7:100080711-100080712	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs555148039	chr7:100080733-100080734	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs7808970	chr7:100080738-100080739	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
19	rs543825758	chr7:100080789-100080790	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs562524939	chr7:100080805-100080806	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs76981412	chr7:100080885-100080886	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs578238203	chr7:100080894-100080895	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs545722032	chr7:100080957-100080958	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs369565713	chr7:100081000-100081001	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs551022340	chr7:100081049-100081050	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs549580845	chr7:100081169-100081170	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs113459328	chr7:100081186-100081187	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	mRNA abundance
28	rs531856944	chr7:100081301-100081302	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs113738841	chr7:100081306-100081307	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	mRNA abundance
30	rs571628005	chr7:100081319-100081320	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs538688354	chr7:100081404-100081405	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs551260460	chr7:100081405-100081406	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs566459563	chr7:100081459-100081460	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs554155314	chr7:100081463-100081464	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs533723855	chr7:100081542-100081543	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs572558145	chr7:100081555-100081556	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs573626399	chr7:100081573-100081574	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs537948278	chr7:100081596-100081597	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs555845328	chr7:100081601-100081602	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs560946149	chr7:100081619-100081620	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs545066316	chr7:100081628-100081629	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs11763511	chr7:100081944-100081945	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs10267127	chr7:100081952-100081953	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542826685	chr7:100081962-100081963	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs536127902	chr7:100082075-100082076	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs531070408	chr7:100082096-100082097	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs35176248	chr7:100082127-100082128	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs561537222	chr7:100082135-100082136	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs374333073	chr7:100082180-100082181	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs57383759	chr7:100082197-100082198	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100076800-100080400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:100077000-100080400	Weak transcription	Spleen	Spleen
3	chr7:100077200-100080400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:100077200-100080600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:100077400-100080400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:100077400-100080400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:100077400-100080400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:100077400-100080400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:100077400-100080400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:100077400-100080400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:100077400-100080400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:100077400-100080400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:100077400-100080400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr7:100077400-100080400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:100077400-100080400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:100077400-100080400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:100077400-100080400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:100077400-100080400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:100077400-100080400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:100077400-100080400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:100077400-100080400	Weak transcription	Fetal Kidney	kidney
22	chr7:100077400-100080400	Weak transcription	Gastric	stomach
23	chr7:100077400-100080400	Weak transcription	Left Ventricle	heart
24	chr7:100077400-100080400	Weak transcription	Lung	lung
25	chr7:100077400-100080400	Weak transcription	Pancreas	Pancrea
26	chr7:100077400-100080400	Weak transcription	Psoas Muscle	Psoas
27	chr7:100077400-100080400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:100077400-100080400	Weak transcription	Right Atrium	heart
29	chr7:100077400-100080400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:100077400-100080400	Weak transcription	Small Intestine	intestine
31	chr7:100077400-100080400	Weak transcription	HMEC	breast
32	chr7:100077400-100080400	Weak transcription	HSMM	muscle
33	chr7:100077400-100080400	Weak transcription	HUVEC	blood vessel
34	chr7:100077400-100080400	Weak transcription	NH-A	brain
35	chr7:100077400-100080400	Weak transcription	NHDF-Ad	bronchial
36	chr7:100077400-100080400	Weak transcription	NHEK	skin
37	chr7:100077400-100080400	Weak transcription	NHLF	lung
38	chr7:100077400-100080400	Weak transcription	Osteobl	bone
39	chr7:100077400-100080600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:100077400-100080600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:100077400-100080600	Weak transcription	Aorta	Aorta
42	chr7:100077600-100080400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:100077600-100080400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:100077600-100080400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:100077600-100080400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:100077600-100080400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:100077600-100080400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:100077600-100080400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:100077600-100080400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:100077600-100080400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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