Variant report

Variant	rs2016160
Chromosome Location	chr1:47571601-47571602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47565566..47567754-chr1:47569230..47571813,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10890446	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs10890447	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs10890457	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10890460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10890464	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs11211422	0.83[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs11211423	0.84[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs11211439	0.83[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs11211446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs11211451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11211457	1.00[CEU][hapmap];0.97[YRI][hapmap]
rs12022635	0.85[YRI][hapmap]
rs12037014	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12564635	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs12734327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12736235	0.83[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs1393667	0.83[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs1502908	1.00[JPT][hapmap]
rs1847222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1847223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1967757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2055500	0.84[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2134471	0.84[CEU][hapmap]
rs2405580	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs2742079	0.87[CEU][hapmap]
rs2798352	0.87[CEU][hapmap]
rs4448558	1.00[JPT][hapmap];0.93[YRI][hapmap]
rs4926785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4926793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6664392	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6664496	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs6690005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7545399	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs9701154	0.84[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs9793202	0.83[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs9793471	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs9793716	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv870705	chr1:47533705-47620126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871010	chr1:47533705-47637999	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv870899	chr1:47548974-47637999	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv13964	chr1:47565590-47574182	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47557800-47573800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:47570600-47573600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:47570800-47572400	Weak transcription	NHEK	skin
4	chr1:47570800-47573200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:47571000-47572200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:47571000-47572200	Weak transcription	HMEC	breast

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