Variant report

Variant	rs6958952
Chromosome Location	chr7:4814862-4814863
allele	A/G
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	ELF1	chr7:4814533-4815564	K562	blood:	n/a	chr7:4815128-4815140 chr7:4815399-4815411
2	HA-E2F1	chr7:4814715-4815542	MCF-7	breast:	n/a	n/a
3	GABPA	chr7:4814293-4816012	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr7:4814765-4815572	A549	lung:	n/a	n/a
5	FOXA1	chr7:4814781-4815419	T-47D	breast:	n/a	n/a
6	FOXA2	chr7:4814721-4815594	A549	lung:	n/a	n/a
7	POLR2A	chr7:4814286-4816058	HUVEC	blood vessel:	n/a	n/a
8	NFYB	chr7:4814808-4815392	GM12878	blood:	n/a	chr7:4815172-4815187 chr7:4815174-4815189 chr7:4815172-4815187
9	MYC	chr7:4814854-4815427	H1-hESC	embryonic stem cell:	n/a	chr7:4815127-4815137 chr7:4814893-4814902 chr7:4815215-4815224
10	ELK1	chr7:4814636-4815471	GM12878	blood:	n/a	n/a
11	GABPA	chr7:4814850-4815579	GM12878	blood:	n/a	n/a
12	USF1	chr7:4814807-4815687	A549	lung:	n/a	chr7:4815123-4815139 chr7:4815216-4815225 chr7:4815396-4815412 chr7:4815215-4815224 chr7:4815214-4815223 chr7:4815215-4815224 chr7:4815213-4815226
13	POLR2A	chr7:4813203-4815923	GM12878	blood:	n/a	n/a
14	MXI1	chr7:4814557-4815876	HepG2	liver:	n/a	n/a
15	TBP	chr7:4814530-4815869	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:4814368-4815467	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr7:4813728-4815927	K562	blood:	n/a	n/a
18	GABPA	chr7:4814568-4815575	A549	lung:	n/a	n/a
19	POLR2A	chr7:4814689-4815528	H1-hESC	embryonic stem cell:	n/a	n/a
20	WRNIP1	chr7:4814195-4815402	GM12878	blood:	n/a	n/a
21	JUN	chr7:4814572-4815732	K562	blood:	n/a	n/a
22	TAF1	chr7:4814789-4815466	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr7:4814369-4815578	HepG2	liver:	n/a	chr7:4815127-4815137 chr7:4814893-4814902 chr7:4815215-4815224
24	SIN3AK20	chr7:4814511-4815910	MCF-7	breast:	n/a	n/a
25	RCOR1	chr7:4814196-4815770	K562	blood:	n/a	n/a
26	HEY1	chr7:4814399-4815785	K562	blood:	n/a	n/a
27	NR2C2	chr7:4814711-4815429	Hela-S3	cervix:	n/a	chr7:4815045-4815060 chr7:4815084-4815091 chr7:4815047-4815060 chr7:4815044-4815051
28	MAX	chr7:4814446-4815685	A549	lung:	n/a	chr7:4815127-4815137 chr7:4814893-4814902 chr7:4815215-4815224
29	UBTF	chr7:4814561-4815127	K562	blood:	n/a	n/a
30	ELK1	chr7:4814840-4815447	Hela-S3	cervix:	n/a	n/a
31	CUX1	chr7:4814642-4815020	GM12878	blood:	n/a	n/a
32	JUND	chr7:4814818-4815481	A549	lung:	n/a	n/a
33	ZBTB7A	chr7:4814745-4815530	ECC-1	luminal epithelium:	n/a	n/a
34	TAF1	chr7:4814537-4815492	SK-N-SH	brain:	n/a	n/a
35	SIN3AK20	chr7:4814637-4814937	A549	lung:	n/a	n/a
36	POLR2A	chr7:4813945-4815844	HepG2	liver:	n/a	n/a
37	NFIC	chr7:4814603-4815680	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:4814172-4815942	K562	blood:	n/a	n/a
39	FOXA1	chr7:4814792-4815039	T-47D	breast:	n/a	n/a
40	TRIM28	chr7:4814816-4815475	K562	blood:	n/a	n/a
41	E2F4	chr7:4814683-4814947	GM12878	blood:	n/a	n/a
42	YY1	chr7:4814776-4815493	HepG2	liver:	n/a	n/a
43	BHLHE40	chr7:4814641-4815660	HepG2	liver:	n/a	chr7:4815123-4815139 chr7:4815216-4815225 chr7:4815396-4815412 chr7:4815215-4815224 chr7:4815214-4815223 chr7:4815215-4815224 chr7:4815213-4815226
44	POLR2A	chr7:4814860-4815559	A549	lung:	n/a	n/a
45	POLR2A	chr7:4813054-4816074	GM12891	blood:	n/a	n/a
46	FOSL2	chr7:4814606-4815477	A549	lung:	n/a	n/a
47	CHD2	chr7:4814252-4815500	GM12878	blood:	n/a	chr7:4815146-4815156
48	POU2F2	chr7:4814721-4815578	GM12891	blood:	n/a	n/a
49	TCF12	chr7:4814312-4815927	A549	lung:	n/a	n/a
50	USF1	chr7:4814725-4815718	SK-N-SH_RA	brain:	n/a	chr7:4815123-4815139 chr7:4815216-4815225 chr7:4815396-4815412 chr7:4815215-4815224 chr7:4815214-4815223 chr7:4815215-4815224 chr7:4815213-4815226

No.	Distal block	Cell Line	Cell type
1	chr7:4721460..4723337-chr7:4813356..4816619,3	MCF-7	breast:
2	chr11:57435291..57435963-chr7:4814494..4815452,2	Hela-S3	cervix:
3	chr7:4813279..4817996-chr7:4818432..4827499,15	MCF-7	breast:
4	chr7:4777828..4782067-chr7:4812094..4815733,5	K562	blood:
5	chr7:4779354..4780876-chr7:4813776..4815968,2	K562	blood:
6	chr7:4720968..4723057-chr7:4814172..4816062,2	MCF-7	breast:
7	chr2:27434760..27435750-chr7:4814658..4815639,2	Hela-S3	cervix:
8	chr3:124465808..124466729-chr7:4814623..4815217,2	Hela-S3	cervix:
9	chr7:4814685..4815215-chr9:139581443..139582150,2	Hela-S3	cervix:
10	chr7:4796791..4799856-chr7:4814075..4815841,3	MCF-7	breast:

Variant related genes	Relation type
AP5Z1	TF binding region
ENSG00000169692	Chromatin interaction
ENSG00000138074	Chromatin interaction
ENSG00000164916	Chromatin interaction
ENSG00000138085	Chromatin interaction
ENSG00000242802	Chromatin interaction
ENSG00000156599	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11628	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11764272	0.83[ASN][1000 genomes]
rs11764275	0.83[ASN][1000 genomes]
rs11768079	0.83[ASN][1000 genomes]
rs11772411	0.83[ASN][1000 genomes]
rs12701943	0.83[ASN][1000 genomes]
rs13224156	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13236366	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135096	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17135099	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17135102	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135110	0.93[ASN][1000 genomes]
rs17135121	0.83[ASN][1000 genomes]
rs17135128	0.83[ASN][1000 genomes]
rs34217589	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35713835	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3750014	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750015	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750016	0.81[ASN][1000 genomes]
rs3750018	0.81[ASN][1000 genomes]
rs3750019	0.81[ASN][1000 genomes]
rs3801041	0.96[ASN][1000 genomes]
rs59174566	0.83[ASN][1000 genomes]
rs60972000	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6975325	0.93[ASN][1000 genomes]
rs73671922	0.83[ASN][1000 genomes]
rs7801122	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv823994	chr7:4792385-4928328	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv887382	chr7:4792762-4880954	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4813800-4817000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:4814000-4816200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr7:4814000-4816400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr7:4814200-4815000	Flanking Active TSS	Fetal Muscle Trunk	muscle
5	chr7:4814200-4815000	Flanking Active TSS	Fetal Thymus	thymus
6	chr7:4814200-4816000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:4814200-4816200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:4814200-4816200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:4814200-4816200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:4814200-4816200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr7:4814200-4816400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:4814400-4815800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:4814400-4815800	Active TSS	Aorta	Aorta
14	chr7:4814400-4816000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr7:4814400-4816000	Active TSS	Ovary	ovary
16	chr7:4814400-4816200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr7:4814400-4816200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr7:4814400-4816200	Active TSS	Psoas Muscle	Psoas
19	chr7:4814400-4816400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:4814400-4816400	Active TSS	Fetal Kidney	kidney
21	chr7:4814400-4816400	Active TSS	GM12878-XiMat	blood
22	chr7:4814400-4816400	Active TSS	Osteobl	bone
23	chr7:4814400-4816600	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:4814600-4815000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:4814600-4815000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:4814600-4815400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:4814600-4815600	Active TSS	Liver	Liver
28	chr7:4814600-4815600	Active TSS	Brain Angular Gyrus	brain
29	chr7:4814600-4815600	Active TSS	Brain Substantia Nigra	brain
30	chr7:4814600-4815600	Active TSS	Fetal Intestine Small	intestine
31	chr7:4814600-4815600	Active TSS	Placenta	Placenta
32	chr7:4814600-4815600	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr7:4814600-4815600	Active TSS	Stomach Smooth Muscle	stomach
34	chr7:4814600-4815800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:4814600-4815800	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr7:4814600-4815800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:4814600-4815800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:4814600-4815800	Active TSS	Brain Cingulate Gyrus	brain
39	chr7:4814600-4815800	Active TSS	Brain Hippocampus Middle	brain
40	chr7:4814600-4815800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr7:4814600-4815800	Active TSS	Colon Smooth Muscle	Colon
42	chr7:4814600-4815800	Active TSS	Duodenum Mucosa	Duodenum
43	chr7:4814600-4815800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr7:4814600-4815800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr7:4814600-4815800	Active TSS	Fetal Brain Female	brain
46	chr7:4814600-4815800	Active TSS	Fetal Heart	heart
47	chr7:4814600-4815800	Active TSS	Fetal Lung	lung
48	chr7:4814600-4815800	Active TSS	Fetal Stomach	stomach
49	chr7:4814600-4815800	Active TSS	Stomach Mucosa	stomach
50	chr7:4814600-4815800	Active TSS	Spleen	Spleen

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