Variant report

Variant	rs767185
Chromosome Location	chr7:80485189-80485190
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80484916..80486773-chr7:80487688..80489327,2	MCF-7	breast:
2	chr7:80483949..80488794-chr7:80543967..80547948,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10242487	1.00[ASN][1000 genomes]
rs10264043	1.00[ASN][1000 genomes]
rs11977933	1.00[CHB][hapmap]
rs12666421	1.00[CHB][hapmap]
rs12671203	1.00[CHB][hapmap]
rs12673546	1.00[CHB][hapmap]
rs4259358	1.00[ASN][1000 genomes]
rs4731944	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs853034	1.00[ASN][1000 genomes]
rs853037	1.00[ASN][1000 genomes]
rs853059	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs853060	1.00[ASN][1000 genomes]
rs972504	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028776	chr7:80414636-80555284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1793009	chr7:80483745-80490446	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80460400-80514600	Weak transcription	Left Ventricle	heart
2	chr7:80471800-80532600	Weak transcription	Fetal Stomach	stomach
3	chr7:80472600-80498400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:80473000-80485600	Weak transcription	Fetal Intestine Small	intestine
5	chr7:80473000-80487000	Weak transcription	Fetal Intestine Large	intestine
6	chr7:80474400-80492000	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:80474400-80499400	Weak transcription	Psoas Muscle	Psoas
8	chr7:80476000-80487400	Weak transcription	HSMMtube	muscle
9	chr7:80476600-80487200	Weak transcription	HSMM	muscle
10	chr7:80477800-80487400	Weak transcription	NHEK	skin
11	chr7:80478000-80487400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:80478800-80486000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:80480800-80494000	Weak transcription	Aorta	Aorta
14	chr7:80481600-80486000	Weak transcription	NHLF	lung
15	chr7:80481600-80487600	Weak transcription	Adipose Nuclei	Adipose
16	chr7:80481600-80487600	Weak transcription	NHDF-Ad	bronchial
17	chr7:80481800-80486000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:80481800-80486000	Weak transcription	HMEC	breast
19	chr7:80481800-80487000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:80481800-80487000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:80481800-80487200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:80481800-80487200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:80481800-80487400	Weak transcription	Osteobl	bone
24	chr7:80481800-80488000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:80482000-80485400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:80482200-80485800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:80482400-80486400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:80483000-80486200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:80483000-80486400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:80483800-80486200	Weak transcription	Gastric	stomach
31	chr7:80484200-80487000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:80484800-80486000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:80484800-80487400	Enhancers	A549	lung
34	chr7:80484800-80506200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:80485000-80485400	Weak transcription	Colon Smooth Muscle	Colon

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