Variant report

Variant	rs12508156
Chromosome Location	chr4:87427449-87427450
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	chr4:87425423..87428223-chr4:87514658..87517534,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109339	Chromatin interaction
ENSG00000163629	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11938022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947245	1.00[ASN][1000 genomes]
rs12498653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12499206	1.00[ASN][1000 genomes]
rs12500132	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs12501614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12502371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12502487	1.00[ASN][1000 genomes]
rs12505291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12505800	1.00[EUR][1000 genomes]
rs12508545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12508579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12508626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12509039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12509049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12509430	1.00[ASN][1000 genomes]
rs12510314	1.00[ASN][1000 genomes]
rs12512524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4472106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839310	0.83[EUR][1000 genomes]
rs7690866	1.00[EUR][1000 genomes]

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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87418800-87429000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:87419600-87430600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:87420200-87429200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:87420400-87427600	Weak transcription	Fetal Kidney	kidney
5	chr4:87423000-87429400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:87423200-87427600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:87423200-87427600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:87423400-87427600	Weak transcription	NHDF-Ad	bronchial
9	chr4:87423400-87429200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:87423600-87427600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:87427000-87428000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:87427000-87428000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:87427400-87427600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:87427400-87427800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:87427400-87428000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr4:87427400-87428000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:87427400-87428000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:87427400-87428000	Enhancers	NHLF	lung
19	chr4:87427400-87428200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:87427400-87428400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:87427400-87428600	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr4:87427400-87430200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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