Variant report

Variant	rs12334276
Chromosome Location	chr7:7593159-7593160
allele	G/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	E2F4	chr7:7593005-7593305	MCF10A-Er-Src	breast:	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	NR3C1	chr7:7593023-7593328	A549	lung:	n/a	chr7:7593227-7593243 chr7:7593225-7593246 chr7:7593228-7593242 chr7:7593227-7593243 chr7:7593227-7593243 chr7:7593227-7593243
10	FOS	chr7:7592996-7593442	MCF10A-Er-Src	breast:	n/a	chr7:7593289-7593298
11	STAT3	chr7:7592990-7593410	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr7:7592699-7594139	MCF10A-Er-Src	breast:	n/a	n/a
13	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
14	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
ENSG00000272894	Chromatin interaction
ENSG00000164654	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10085615	1.00[AMR][1000 genomes]
rs10085678	1.00[AMR][1000 genomes]
rs10224056	1.00[AMR][1000 genomes]
rs10226442	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227544	1.00[AMR][1000 genomes]
rs10237888	1.00[AMR][1000 genomes]
rs10242691	1.00[AMR][1000 genomes]
rs10244335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10244366	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10244757	1.00[AMR][1000 genomes]
rs10246309	1.00[AMR][1000 genomes]
rs10247226	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255581	1.00[AMR][1000 genomes]
rs10257117	1.00[AMR][1000 genomes]
rs10257279	1.00[AMR][1000 genomes]
rs10257458	1.00[AMR][1000 genomes]
rs10258922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10259911	1.00[AMR][1000 genomes]
rs10262309	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10266393	1.00[AMR][1000 genomes]
rs10267405	1.00[AMR][1000 genomes]
rs10269709	1.00[AMR][1000 genomes]
rs10278024	1.00[AMR][1000 genomes]
rs10282183	1.00[AMR][1000 genomes]
rs12333875	1.00[AMR][1000 genomes]
rs17168530	1.00[AMR][1000 genomes]
rs28442228	1.00[AMR][1000 genomes]
rs28535494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28565038	1.00[AMR][1000 genomes]
rs28602992	1.00[AMR][1000 genomes]
rs28628287	1.00[AFR][1000 genomes]
rs28681690	1.00[AMR][1000 genomes]
rs28712138	1.00[AMR][1000 genomes]
rs28842558	1.00[AMR][1000 genomes]
rs6951703	1.00[AMR][1000 genomes]
rs7778417	1.00[AMR][1000 genomes]
rs7791164	1.00[AMR][1000 genomes]
rs7805479	1.00[AMR][1000 genomes]
rs7810456	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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

No data

Chromatin state (count:28 , 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	chr7:7592000-7593200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:7592000-7593800	Weak transcription	Liver	Liver
17	chr7:7592000-7594200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:7592000-7596400	Weak transcription	Lung	lung
19	chr7:7592200-7594600	Enhancers	HSMM	muscle
20	chr7:7592400-7593400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:7592400-7599200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:7592600-7593400	Enhancers	Osteobl	bone
23	chr7:7592600-7594400	Weak transcription	Psoas Muscle	Psoas
24	chr7:7592800-7593800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr7:7593000-7593200	Enhancers	NHDF-Ad	bronchial
26	chr7:7593000-7593600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr7:7593000-7593600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr7:7593000-7594600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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