Variant report

Variant	rs6991517
Chromosome Location	chr8:131692187-131692188
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	chr8:131690260..131692940-chr8:131696333..131701306,4	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10094193	0.81[ASN][1000 genomes]
rs10101684	0.90[ASN][1000 genomes]
rs1509845	0.86[ASN][1000 genomes]
rs1509846	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1553792	0.86[ASN][1000 genomes]
rs17222937	0.84[ASN][1000 genomes]
rs17314117	0.86[ASN][1000 genomes]
rs28668220	0.85[ASN][1000 genomes]
rs28692725	0.86[ASN][1000 genomes]
rs4628270	0.86[ASN][1000 genomes]
rs4736578	0.87[ASN][1000 genomes]
rs72728265	0.88[EUR][1000 genomes]
rs72728277	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72728279	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72728282	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72728301	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9649964	0.82[ASN][1000 genomes]
rs9650110	0.86[ASN][1000 genomes]
rs969963	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs978494	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915864	chr8:131509799-131754822	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2752684	chr8:131641096-131710094	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv612294	chr8:131645079-131923377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131686200-131694800	Weak transcription	Esophagus	oesophagus
2	chr8:131688200-131692400	Weak transcription	Brain Germinal Matrix	brain
3	chr8:131688200-131694200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:131688200-131694200	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:131688200-131694800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:131688400-131692200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:131688400-131692400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:131688400-131692800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:131688400-131693400	Weak transcription	A549	lung
10	chr8:131688400-131693600	Weak transcription	NHLF	lung
11	chr8:131688400-131694000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:131688400-131694400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:131688400-131694400	Weak transcription	HSMMtube	muscle
14	chr8:131688400-131694600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:131688400-131694600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:131688600-131694400	Weak transcription	NHDF-Ad	bronchial
17	chr8:131689800-131694400	Weak transcription	HMEC	breast
18	chr8:131690200-131694200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:131690200-131694400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:131690200-131694600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:131690400-131694200	Weak transcription	NHEK	skin
22	chr8:131691400-131694400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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