Variant report

Variant	rs12270580
Chromosome Location	chr11:93639122-93639123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1032934	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1032935	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10501811	0.81[CHD][hapmap];0.88[JPT][hapmap]
rs11020587	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1113700	0.88[EUR][1000 genomes]
rs1401184	1.00[CEU][hapmap]
rs1605292	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1605293	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2203793	1.00[CEU][hapmap]
rs2460047	0.88[EUR][1000 genomes]
rs2460065	1.00[CEU][hapmap]
rs2462733	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap]
rs2462735	1.00[CEU][hapmap]
rs2462758	1.00[CEU][hapmap]
rs28893204	0.80[ASN][1000 genomes]
rs4590831	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57214110	1.00[EUR][1000 genomes]
rs57367718	1.00[EUR][1000 genomes]
rs57637135	0.80[ASN][1000 genomes]
rs59013509	0.88[EUR][1000 genomes]
rs61463513	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6483278	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67224452	0.80[ASN][1000 genomes]
rs67689846	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs68019383	0.88[EUR][1000 genomes]
rs7102891	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72962832	1.00[EUR][1000 genomes]
rs7931748	0.80[ASN][1000 genomes]
rs7932631	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7943094	0.87[ASN][1000 genomes]
rs908754	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs978950	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs978952	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv508650	chr11:93609010-93713576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv10748	chr11:93636188-93640796	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
4	esv11328	chr11:93638553-93641193	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93636400-93639600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:93637400-93641800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr11:93638200-93639200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:93638400-93639200	Enhancers	Placenta	Placenta
5	chr11:93638400-93639200	Enhancers	HSMM	muscle
6	chr11:93638400-93640200	Enhancers	NH-A	brain
7	chr11:93638400-93640400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:93638400-93640600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:93638400-93643000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:93638600-93639200	Enhancers	HSMMtube	muscle
11	chr11:93638600-93640200	Enhancers	NHDF-Ad	bronchial
12	chr11:93638600-93642600	Enhancers	HMEC	breast
13	chr11:93638800-93639600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:93639000-93641200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:93639000-93641200	Weak transcription	NHEK	skin
16	chr11:93639000-93641400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:93639000-93641400	Weak transcription	Osteobl	bone

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