Variant report

Variant	rs7796709
Chromosome Location	chr7:7593948-7593949
allele	C/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	POLR2A	chr7:7592858-7594124	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr7:7592945-7594529	MCF10A-Er-Src	breast:	n/a	chr7:7593995-7594003
3	TCF7L2	chr7:7593576-7595058	HEK293	kidney:	n/a	chr7:7594662-7594678 chr7:7594662-7594678
4	KAP1	chr7:7593215-7595132	HEK293	kidney:	n/a	n/a
5	STAT3	chr7:7593698-7594083	MCF10A-Er-Src	breast:	n/a	chr7:7593995-7594003
6	STAT3	chr7:7593674-7594536	MCF10A-Er-Src	breast:	n/a	chr7:7593995-7594003
7	FOS	chr7:7593741-7594134	MCF10A-Er-Src	breast:	n/a	chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593936-7593944
8	MYC	chr7:7593703-7594152	MCF10A-Er-Src	breast:	n/a	n/a
9	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
10	POLR2A	chr7:7593474-7594203	U87	brain:	n/a	n/a
11	E2F4	chr7:7593535-7594161	MCF10A-Er-Src	breast:	n/a	chr7:7593961-7593969 chr7:7593955-7593972 chr7:7593962-7593969 chr7:7593961-7593969 chr7:7593958-7593969 chr7:7593955-7593972
12	MYC	chr7:7593732-7594298	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr7:7592699-7594139	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr7:7593504-7594140	U87	brain:	n/a	n/a
15	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
16	STAT3	chr7:7592988-7594187	MCF10A-Er-Src	breast:	n/a	chr7:7593995-7594003
17	KAP1	chr7:7593564-7594120	U2OS	brain:	n/a	n/a
18	POLR2A	chr7:7593534-7594203	U87	brain:	n/a	n/a
19	FOS	chr7:7593633-7594168	MCF10A-Er-Src	breast:	n/a	chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593936-7593944

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
ENSG00000272894	Chromatin interaction
ENSG00000164654	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1013002	0.95[EUR][1000 genomes]
rs1016028	1.00[EUR][1000 genomes]
rs10229961	0.81[EUR][1000 genomes]
rs10276434	0.81[EUR][1000 genomes]
rs11773679	0.81[EUR][1000 genomes]
rs11976831	1.00[EUR][1000 genomes]
rs11983756	0.86[EUR][1000 genomes]
rs12535954	0.86[EUR][1000 genomes]
rs1294600	1.00[AMR][1000 genomes]
rs2051910	0.86[EUR][1000 genomes]
rs2051912	0.86[EUR][1000 genomes]
rs2051913	0.86[EUR][1000 genomes]
rs2051914	0.86[EUR][1000 genomes]
rs2108063	0.81[EUR][1000 genomes]
rs2108064	0.81[EUR][1000 genomes]
rs2108067	1.00[EUR][1000 genomes]
rs2190248	1.00[EUR][1000 genomes]
rs2348265	0.86[EUR][1000 genomes]
rs2348339	0.95[EUR][1000 genomes]
rs2881888	0.86[EUR][1000 genomes]
rs2881890	0.81[EUR][1000 genomes]
rs4035104	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4380838	0.86[EUR][1000 genomes]
rs4720741	0.95[EUR][1000 genomes]
rs4725005	0.81[EUR][1000 genomes]
rs6463696	0.86[EUR][1000 genomes]
rs6463705	0.86[EUR][1000 genomes]
rs6946022	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6946425	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6948157	1.00[EUR][1000 genomes]
rs6948448	0.91[EUR][1000 genomes]
rs6958110	0.81[EUR][1000 genomes]
rs6962939	0.81[EUR][1000 genomes]
rs6964397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6974246	0.86[EUR][1000 genomes]
rs7384200	0.81[EUR][1000 genomes]
rs7783239	0.86[EUR][1000 genomes]
rs7789187	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7789287	0.86[EUR][1000 genomes]
rs7791344	0.95[EUR][1000 genomes]
rs7805565	0.86[EUR][1000 genomes]
rs7806046	0.86[EUR][1000 genomes]
rs7808788	1.00[EUR][1000 genomes]
rs7810367	0.86[EUR][1000 genomes]
rs9640043	1.00[EUR][1000 genomes]
rs9640044	0.86[EUR][1000 genomes]
rs9640045	0.86[EUR][1000 genomes]
rs972600	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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

No data

Chromatin state (count:40 , 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	chr7:7590000-7595000	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:7590000-7606000	Weak transcription	Brain Substantia Nigra	brain
9	chr7:7590000-7606200	Weak transcription	Ovary	ovary
10	chr7:7590200-7605800	Weak transcription	Brain Anterior Caudate	brain
11	chr7:7590200-7605800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:7591800-7594800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:7592000-7594200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:7592000-7596400	Weak transcription	Lung	lung
15	chr7:7592200-7594600	Enhancers	HSMM	muscle
16	chr7:7592400-7599200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:7592600-7594400	Weak transcription	Psoas Muscle	Psoas
18	chr7:7593000-7594600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:7593200-7594000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:7593200-7594200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:7593200-7594600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:7593200-7594600	Enhancers	NH-A	brain
23	chr7:7593400-7594000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:7593400-7594000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:7593400-7594600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:7593400-7594600	Enhancers	HSMMtube	muscle
27	chr7:7593600-7594000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:7593600-7594000	Enhancers	Brain Germinal Matrix	brain
29	chr7:7593600-7594000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr7:7593600-7594000	Enhancers	HUVEC	blood vessel
31	chr7:7593600-7594200	Enhancers	NHEK	skin
32	chr7:7593600-7595200	Enhancers	Fetal Muscle Leg	muscle
33	chr7:7593600-7595200	Enhancers	Pancreas	Pancrea
34	chr7:7593800-7594000	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr7:7593800-7594200	Active TSS	Muscle Satellite Cultured Cells	--
36	chr7:7593800-7595000	Enhancers	Liver	Liver
37	chr7:7593800-7595200	Enhancers	Osteobl	bone
38	chr7:7593800-7595400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:7593800-7595400	Enhancers	NHDF-Ad	bronchial
40	chr7:7593800-7606000	Weak transcription	Right Atrium	heart

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