Variant report

Variant	rs12636095
Chromosome Location	chr3:120187472-120187473
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:120185144..120187635-chr3:120188543..120191304,2	MCF-7	breast:
2	chr3:120181379..120183324-chr3:120187203..120188859,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1123897	0.85[JPT][hapmap]
rs1147708	0.86[ASN][1000 genomes]
rs1147713	1.00[ASN][1000 genomes]
rs1147720	0.92[JPT][hapmap]
rs1259308	0.99[ASN][1000 genomes]
rs1259311	0.86[JPT][hapmap]
rs1259319	0.88[ASN][1000 genomes]
rs1259329	0.86[JPT][hapmap]
rs1259333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1259334	0.85[JPT][hapmap]
rs1259335	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1259336	0.86[JPT][hapmap]
rs1259337	0.85[JPT][hapmap]
rs1259338	0.85[JPT][hapmap]
rs1259339	1.00[JPT][hapmap]
rs1259342	1.00[ASN][1000 genomes]
rs1267675	0.85[JPT][hapmap]
rs1270209	0.86[JPT][hapmap]
rs1716835	0.85[JPT][hapmap]
rs1733319	0.85[JPT][hapmap]
rs2252084	0.93[JPT][hapmap]
rs34627675	1.00[AFR][1000 genomes]
rs874477	0.92[JPT][hapmap]
rs9631455	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	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120170400-120190800	Weak transcription	Aorta	Aorta
2	chr3:120180000-120188000	Weak transcription	HSMMtube	muscle
3	chr3:120180200-120188000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:120181200-120188600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:120181600-120187600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:120181600-120187800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:120181600-120189800	Weak transcription	Left Ventricle	heart
8	chr3:120181800-120187800	Weak transcription	Pancreas	Pancrea
9	chr3:120182000-120187800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:120182000-120188200	Weak transcription	Osteobl	bone
11	chr3:120186000-120195000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr3:120186600-120188800	Weak transcription	Adipose Nuclei	Adipose
13	chr3:120186600-120193800	Enhancers	NHDF-Ad	bronchial
14	chr3:120186600-120195000	Enhancers	Placenta	Placenta
15	chr3:120186800-120189400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:120186800-120191200	Enhancers	Fetal Heart	heart
17	chr3:120187000-120188200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:120187000-120191000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:120187200-120188000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:120187200-120190000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:120187400-120187800	Weak transcription	Right Atrium	heart
22	chr3:120187400-120188000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:120187400-120188400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:120187400-120188600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:120187400-120188600	Enhancers	NHEK	skin
26	chr3:120187400-120190200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr3:120187400-120191000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:120187400-120191000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:120187400-120191400	Enhancers	HMEC	breast
30	chr3:120187400-120193200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:120187400-120193800	Enhancers	HSMM	muscle

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