Variant report

Variant	rs7782178
Chromosome Location	chr7:7593333-7593334
allele	C/T
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	POLR2A	chr7:7592858-7594124	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr7:7593003-7593431	MCF10A-Er-Src	breast:	n/a	chr7:7593289-7593298
3	STAT3	chr7:7592945-7594529	MCF10A-Er-Src	breast:	n/a	chr7:7593995-7594003
4	KAP1	chr7:7593215-7595132	HEK293	kidney:	n/a	n/a
5	MYC	chr7:7593053-7593389	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr7:7592801-7593448	MCF10A-Er-Src	breast:	n/a	chr7:7592910-7592933 chr7:7592914-7592921
7	NR3C1	chr7:7593063-7593373	A549	lung:	n/a	chr7:7593227-7593243 chr7:7593225-7593246 chr7:7593228-7593242 chr7:7593227-7593243 chr7:7593227-7593243 chr7:7593227-7593243
8	FOS	chr7:7592974-7594183	MCF10A-Er-Src	breast:	n/a	chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593936-7593944 chr7:7593289-7593298
9	FOS	chr7:7592996-7593442	MCF10A-Er-Src	breast:	n/a	chr7:7593289-7593298
10	STAT3	chr7:7592990-7593410	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr7:7592699-7594139	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr7:7592993-7594188	MCF10A-Er-Src	breast:	n/a	chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593936-7593944 chr7:7593289-7593298
13	STAT3	chr7:7592988-7594187	MCF10A-Er-Src	breast:	n/a	chr7:7593995-7594003

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7588099..7594648-chr7:7604621..7611487,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272732	TF binding region
ENSG00000164654	Chromatin interaction
ENSG00000272894	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10234567	1.00[CHB][hapmap]
rs10235484	1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs10257643	1.00[CHB][hapmap]
rs10276699	1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10486164	1.00[JPT][hapmap]
rs10486183	0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10486184	0.83[AMR][1000 genomes]
rs11972066	0.86[EUR][1000 genomes]
rs11984435	0.86[EUR][1000 genomes]
rs12666084	0.86[EUR][1000 genomes]
rs12666106	0.86[EUR][1000 genomes]
rs12666212	0.86[EUR][1000 genomes]
rs12669035	0.86[EUR][1000 genomes]
rs12670328	0.86[EUR][1000 genomes]
rs12671201	0.86[EUR][1000 genomes]
rs12671418	0.86[EUR][1000 genomes]
rs12672583	0.86[EUR][1000 genomes]
rs17151551	0.92[AFR][1000 genomes]
rs17167726	0.86[EUR][1000 genomes]
rs17167748	0.86[EUR][1000 genomes]
rs17167774	0.86[EUR][1000 genomes]
rs17167927	0.86[EUR][1000 genomes]
rs17168444	0.92[AFR][1000 genomes]
rs17168526	0.84[YRI][hapmap];0.92[AFR][1000 genomes]
rs17168704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169036	1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs17457863	0.86[EUR][1000 genomes]
rs17459718	0.86[EUR][1000 genomes]
rs17459836	0.86[EUR][1000 genomes]
rs17459995	0.86[EUR][1000 genomes]
rs17460037	0.86[EUR][1000 genomes]
rs17461022	0.86[EUR][1000 genomes]
rs17461446	0.86[EUR][1000 genomes]
rs17461474	0.86[EUR][1000 genomes]
rs17461538	0.86[EUR][1000 genomes]
rs17462749	0.86[EUR][1000 genomes]
rs17462946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17464197	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17464497	1.00[AMR][1000 genomes]
rs17464517	1.00[AMR][1000 genomes]
rs17464585	1.00[AMR][1000 genomes]
rs17465493	1.00[AMR][1000 genomes]
rs17516587	0.86[EUR][1000 genomes]
rs17516628	0.86[EUR][1000 genomes]
rs17516739	0.86[EUR][1000 genomes]
rs17517530	0.86[EUR][1000 genomes]
rs17518933	0.86[EUR][1000 genomes]
rs17519339	0.86[EUR][1000 genomes]
rs17519423	0.86[EUR][1000 genomes]
rs17519676	0.86[EUR][1000 genomes]
rs17520004	0.86[EUR][1000 genomes]
rs17520619	0.86[EUR][1000 genomes]
rs17520689	0.86[EUR][1000 genomes]
rs17521499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17521779	0.86[EUR][1000 genomes]
rs17521814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17521904	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17522036	0.86[EUR][1000 genomes]
rs17522077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17522279	0.86[EUR][1000 genomes]
rs17522625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17522950	0.86[EUR][1000 genomes]
rs17523400	0.86[EUR][1000 genomes]
rs1860726	0.86[EUR][1000 genomes]
rs1922629	0.86[EUR][1000 genomes]
rs1978190	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs2191815	0.86[EUR][1000 genomes]
rs34330034	0.86[EUR][1000 genomes]
rs35473859	0.86[EUR][1000 genomes]
rs35772304	0.86[EUR][1000 genomes]
rs3757531	1.00[ASN][1000 genomes]
rs3757532	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs58901081	0.98[AFR][1000 genomes]
rs60654515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956575	0.98[AFR][1000 genomes]
rs6957976	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6969871	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73674556	0.86[EUR][1000 genomes]
rs7778775	1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs7783489	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7791080	1.00[AFR][1000 genomes]
rs7796098	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7810389	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv887473	chr7:7497676-7604913	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1027872	chr7:7516124-7600842	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1024107	chr7:7516124-7601638	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
15	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
16	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
17	esv3426605	chr7:7593082-7593593	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	esv3488440	chr7:7593117-7593474	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv3488437	chr7:7593120-7593449	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv3488438	chr7:7593134-7593405	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	esv3488439	chr7:7593177-7593418	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	esv3488442	chr7:7593234-7593369	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7581800-7595800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:7589400-7605800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:7589800-7596000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:7589800-7596000	Weak transcription	Aorta	Aorta
5	chr7:7589800-7596000	Weak transcription	Placenta	Placenta
6	chr7:7589800-7596600	Weak transcription	Gastric	stomach
7	chr7:7590000-7593600	Weak transcription	Brain Angular Gyrus	brain
8	chr7:7590000-7595000	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:7590000-7606000	Weak transcription	Brain Substantia Nigra	brain
10	chr7:7590000-7606200	Weak transcription	Ovary	ovary
11	chr7:7590200-7605800	Weak transcription	Brain Anterior Caudate	brain
12	chr7:7590200-7605800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:7591800-7593600	Weak transcription	Pancreas	Pancrea
14	chr7:7591800-7594800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:7592000-7593800	Weak transcription	Liver	Liver
16	chr7:7592000-7594200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:7592000-7596400	Weak transcription	Lung	lung
18	chr7:7592200-7594600	Enhancers	HSMM	muscle
19	chr7:7592400-7593400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:7592400-7599200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:7592600-7593400	Enhancers	Osteobl	bone
22	chr7:7592600-7594400	Weak transcription	Psoas Muscle	Psoas
23	chr7:7592800-7593800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr7:7593000-7593600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr7:7593000-7593600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr7:7593000-7594600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:7593200-7593400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:7593200-7593400	Flanking Active TSS	NHDF-Ad	bronchial
29	chr7:7593200-7594000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:7593200-7594200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:7593200-7594600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:7593200-7594600	Enhancers	NH-A	brain

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