Variant report

Variant	rs4532619
Chromosome Location	chr8:119913256-119913257
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	chr8:119774477..119776730-chr8:119911450..119913806,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11573909	0.84[EUR][1000 genomes]
rs11573916	0.84[EUR][1000 genomes]
rs11573926	0.89[EUR][1000 genomes]
rs11573927	0.88[EUR][1000 genomes]
rs11573935	0.90[EUR][1000 genomes]
rs11573938	0.93[CEU][hapmap];0.89[GIH][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs11573953	0.90[EUR][1000 genomes]
rs13279492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1564857	0.84[EUR][1000 genomes]
rs1564858	0.93[CEU][hapmap];0.92[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs2228568	0.90[EUR][1000 genomes]
rs35482628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4446765	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469783	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs6469784	0.90[EUR][1000 genomes]
rs7825904	0.83[GIH][hapmap]
rs7844539	0.83[EUR][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	nsv831444	chr8:119757355-119915966	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv891415	chr8:119886923-119921354	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119908200-119915200	Enhancers	Fetal Intestine Small	intestine
2	chr8:119909200-119914400	Weak transcription	Aorta	Aorta
3	chr8:119909200-119916600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:119909800-119914400	Weak transcription	HSMM	muscle
5	chr8:119910000-119913800	Weak transcription	Osteobl	bone
6	chr8:119910000-119914000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:119910000-119914200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:119910000-119914200	Weak transcription	Pancreas	Pancrea
9	chr8:119910000-119915000	Weak transcription	HUVEC	blood vessel
10	chr8:119910200-119914200	Weak transcription	Stomach Mucosa	stomach
11	chr8:119910200-119914600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:119910200-119914800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:119910200-119914800	Weak transcription	NHEK	skin
14	chr8:119910200-119917200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:119910600-119914400	Weak transcription	Hela-S3	cervix
16	chr8:119910600-119914400	Weak transcription	HMEC	breast
17	chr8:119910800-119913400	Weak transcription	Liver	Liver
18	chr8:119911000-119914800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:119911600-119916400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:119912000-119913400	Weak transcription	Fetal Intestine Large	intestine
21	chr8:119912600-119914000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:119912600-119914600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:119912600-119915600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:119912800-119917800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:119912800-119917800	Enhancers	NHDF-Ad	bronchial
26	chr8:119912800-119917800	Enhancers	NHLF	lung
27	chr8:119913200-119914600	Enhancers	Duodenum Mucosa	Duodenum

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