Variant report

Variant	rs7002995
Chromosome Location	chr8:119927404-119927405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119424882..119426911-chr8:119926050..119928623,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11573913	0.87[AMR][1000 genomes]
rs11573921	0.87[AMR][1000 genomes]
rs11573951	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16891577	0.85[AMR][1000 genomes]
rs1804854	0.87[AMR][1000 genomes]
rs4520195	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56227038	0.82[AFR][1000 genomes]
rs57098524	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57164947	0.85[AMR][1000 genomes]
rs57337873	0.85[AMR][1000 genomes]
rs59029960	0.82[AFR][1000 genomes]
rs59601387	0.81[AFR][1000 genomes]
rs59710397	0.85[AMR][1000 genomes]
rs60864203	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61694778	0.82[AFR][1000 genomes]
rs6990900	0.85[AMR][1000 genomes]
rs73315525	0.85[AMR][1000 genomes]
rs73319635	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319660	0.81[AFR][1000 genomes]
rs73319661	0.80[AFR][1000 genomes]
rs73709377	0.82[AFR][1000 genomes]
rs7815884	0.87[AMR][1000 genomes]
rs7835154	0.87[AMR][1000 genomes]
rs882763	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv8383	chr8:119926155-119934422	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119920600-119929200	Enhancers	HSMM	muscle
2	chr8:119921200-119929000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:119923600-119928200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:119925200-119929200	Enhancers	Hela-S3	cervix
5	chr8:119926800-119928400	Weak transcription	HSMMtube	muscle
6	chr8:119926800-119928400	Weak transcription	NH-A	brain
7	chr8:119926800-119928800	Weak transcription	NHLF	lung
8	chr8:119926800-119934600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:119927000-119927600	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr8:119927000-119928400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:119927000-119928600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:119927000-119928600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:119927000-119928600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:119927000-119928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:119927000-119928800	Weak transcription	HMEC	breast
16	chr8:119927000-119935400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:119927000-119935600	Weak transcription	Osteobl	bone
18	chr8:119927200-119928600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:119927200-119928600	Weak transcription	NHDF-Ad	bronchial
20	chr8:119927200-119928800	Weak transcription	NHEK	skin
21	chr8:119927200-119936400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:119927400-119927800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:119927400-119941400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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