Variant report

Variant	rs4712081
Chromosome Location	chr6:54756529-54756530
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	chr6:54742187..54744014-chr6:54753985..54756805,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10485136	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1115159	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12525787	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12662124	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1393776	0.90[CEU][hapmap];1.00[CHD][hapmap];0.87[MEX][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs148109	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs1503140	0.83[EUR][1000 genomes]
rs1503146	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1503147	0.95[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2064432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2179786	0.81[CHB][hapmap]
rs2816811	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs4141552	0.95[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4715491	0.80[GIH][hapmap]
rs6459035	0.95[EUR][1000 genomes]
rs6902245	0.82[EUR][1000 genomes]
rs6902422	0.82[EUR][1000 genomes]
rs6908170	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6922186	0.82[EUR][1000 genomes]
rs6926997	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs6929930	0.82[EUR][1000 genomes]
rs6939778	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72645372	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7382364	0.83[AMR][1000 genomes]
rs7453866	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7739399	0.85[ASN][1000 genomes]
rs7744592	0.82[EUR][1000 genomes]
rs7746374	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9296771	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs932452	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9349740	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs9367597	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9367602	0.85[ASN][1000 genomes]
rs9370332	0.81[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.82[TSI][hapmap]
rs9370333	0.81[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes]
rs9370337	0.88[ASN][1000 genomes]
rs9370344	0.82[EUR][1000 genomes]
rs9370345	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs9370350	0.80[ASN][1000 genomes]
rs9370351	0.85[ASN][1000 genomes]
rs9370352	0.85[ASN][1000 genomes]
rs9382390	0.83[AMR][1000 genomes]
rs9382391	0.81[AMR][1000 genomes]
rs9382396	0.92[EUR][1000 genomes]
rs9382397	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9382398	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9382402	0.83[EUR][1000 genomes]
rs9382403	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs9382411	0.85[ASN][1000 genomes]
rs9396006	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9396007	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9396013	0.83[ASN][1000 genomes]
rs9396036	0.87[CHB][hapmap]
rs9475068	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9475069	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9475078	0.84[EUR][1000 genomes]
rs9475081	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9475106	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9475107	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs960834	0.86[EUR][1000 genomes]
rs960835	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs988913	0.90[CEU][hapmap];0.95[CHD][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.87[EUR][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	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2763553	chr6:54687979-54820487	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54739800-54763000	Weak transcription	Small Intestine	intestine
2	chr6:54744200-54757600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:54744400-54761000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:54746400-54757800	Weak transcription	Hela-S3	cervix
5	chr6:54752200-54759000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:54752400-54758600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:54755200-54756600	Enhancers	NHEK	skin
8	chr6:54755800-54757200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:54755800-54758000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:54755800-54758000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:54756000-54757200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:54756200-54757000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr6:54756200-54758400	Enhancers	HMEC	breast

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