Variant report

Variant	rs3134057
Chromosome Location	chr8:119953468-119953469
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	chr8:119887309..119888948-chr8:119953395..119955293,2	MCF-7	breast:
2	chr8:119953257..119955097-chr8:119973674..119975994,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1385500	0.81[EUR][1000 genomes]
rs1385503	0.88[EUR][1000 genomes]
rs1485302	0.80[GIH][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs1485303	0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs1564861	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1872426	0.85[GIH][hapmap]
rs1905786	0.85[GIH][hapmap]
rs3102724	1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3134056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134058	0.81[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs3134063	0.83[MEX][hapmap]

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	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	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119928800-119956600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr8:119935000-119956600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:119939400-119958400	Weak transcription	Fetal Lung	lung
4	chr8:119944600-119956200	Weak transcription	HSMMtube	muscle
5	chr8:119945200-119956600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:119945400-119960800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:119945600-119957000	Weak transcription	Aorta	Aorta
8	chr8:119945600-119960600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:119948200-119960200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:119948400-119959600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:119948400-119960600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:119951400-119956400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:119951400-119956400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:119951600-119953600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:119951600-119959400	Strong transcription	NHDF-Ad	bronchial
16	chr8:119952600-119953600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:119952600-119954200	Enhancers	Hela-S3	cervix
18	chr8:119953000-119954200	Enhancers	Fetal Intestine Large	intestine
19	chr8:119953000-119954200	Genic enhancers	Osteobl	bone
20	chr8:119953200-119953800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:119953200-119953800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr8:119953200-119953800	Enhancers	A549	lung
23	chr8:119953200-119954400	Enhancers	Fetal Intestine Small	intestine
24	chr8:119953400-119953600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:119953400-119953800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:119953400-119953800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:119953400-119953800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:119953400-119954400	Enhancers	NHLF	lung
29	chr8:119953400-119954800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr8:119953400-119963600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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