Variant report

Variant	rs17011950
Chromosome Location	chr4:87422090-87422091
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	chr4:87421702..87423258-chr4:87812889..87815471,2	MCF-7	breast:
2	chr4:87416425..87419552-chr4:87420696..87423306,3	K562	blood:

Variant related genes	Relation type
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11097111	0.95[ASN][1000 genomes]
rs11938088	0.86[JPT][hapmap]
rs11939109	0.86[JPT][hapmap]
rs12500955	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[JPT][hapmap]
rs12503051	0.88[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs12508801	0.86[JPT][hapmap]
rs12512698	0.86[JPT][hapmap]
rs12644920	0.86[JPT][hapmap]
rs12649400	0.95[ASN][1000 genomes]
rs17011731	0.85[JPT][hapmap]
rs17011843	0.86[JPT][hapmap]
rs17011890	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2199307	0.86[JPT][hapmap]
rs2869444	0.94[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs2904095	0.86[JPT][hapmap]
rs4235079	0.85[JPT][hapmap]
rs4235080	0.85[JPT][hapmap]
rs4488910	0.94[CHB][hapmap];0.90[CHD][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs59277757	1.00[AFR][1000 genomes]
rs6531925	0.86[JPT][hapmap]
rs6856688	0.86[JPT][hapmap]
rs7669675	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv999470	chr4:87165663-87514552	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537164	chr4:87165663-87514552	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	esv2757071	chr4:87417291-87689533	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	esv2759264	chr4:87417291-87689533	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17011950	DMP1	cis	cerebellum	SCAN
rs17011950	TIGD2	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87407600-87422600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:87415000-87427000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:87418800-87429000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:87419600-87427400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:87419600-87430600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:87420200-87429200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:87420400-87422800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:87420400-87427600	Weak transcription	Fetal Kidney	kidney
9	chr4:87420600-87422800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:87421600-87422200	Enhancers	NHDF-Ad	bronchial
11	chr4:87421600-87427400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:87422000-87422200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr4:87422000-87422400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:87422000-87422800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:87422000-87423000	Weak transcription	NHLF	lung

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