Variant report

Variant	rs12575719
Chromosome Location	chr11:10147996-10147997
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	chr11:10142764..10144683-chr11:10146496..10148132,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10458929	0.85[ASN][1000 genomes]
rs10500715	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10500717	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10743129	0.91[ASN][1000 genomes]
rs10770079	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10770092	0.82[ASN][1000 genomes]
rs10840330	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10840333	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10840334	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10840347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10840348	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10840359	0.82[ASN][1000 genomes]
rs10840361	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10840362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10840370	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11042558	1.00[CEU][hapmap]
rs11042574	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11042589	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11042590	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11042591	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11042592	0.83[EUR][1000 genomes]
rs11042604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11042605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042606	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042610	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs11042624	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11042630	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042634	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11042635	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042639	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042645	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11042647	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11042669	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes]
rs11530489	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11530492	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12221716	0.89[AFR][1000 genomes]
rs12222953	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12283105	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1372807	0.87[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs1442732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16907368	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16907396	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2403226	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2403227	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2403229	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs2923126	1.00[CEU][hapmap]
rs4478985	0.82[ASN][1000 genomes]
rs4529876	0.93[ASN][1000 genomes]
rs4576815	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4625455	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs4909917	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs4910086	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4910118	1.00[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap]
rs59757006	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7106914	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7114303	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7121617	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7938788	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7946995	0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1039636	chr11:10126747-10280570	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1036041	chr11:10131018-10212202	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10122200-10156400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:10123200-10156400	Weak transcription	Fetal Intestine Small	intestine
3	chr11:10137200-10161800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:10140000-10156200	Weak transcription	Fetal Lung	lung
5	chr11:10144200-10160800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:10144400-10152600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:10144600-10156400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:10144800-10148000	Weak transcription	Adipose Nuclei	Adipose
9	chr11:10144800-10152600	Weak transcription	Ovary	ovary
10	chr11:10144800-10154800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:10144800-10155200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:10144800-10161400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:10144800-10161400	Weak transcription	HSMM	muscle
14	chr11:10144800-10170400	Weak transcription	Left Ventricle	heart
15	chr11:10145000-10148200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:10145400-10160800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:10145400-10160800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:10145800-10156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:10146800-10148200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:10147200-10148000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr11:10147200-10149200	Enhancers	NHDF-Ad	bronchial
22	chr11:10147600-10148000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:10147600-10148000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:10147800-10148400	Enhancers	NHLF	lung
25	chr11:10147800-10160800	Weak transcription	NHEK	skin

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