Variant report

Variant	rs11180700
Chromosome Location	chr12:76219996-76219997
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	chr12:76219491..76221140-chr12:76419006..76420683,2	MCF-7	breast:
2	chr12:76218050..76221140-chr12:76222385..76226289,4	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10431516	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10431517	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10431594	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10431595	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11180691	0.93[ASN][1000 genomes]
rs11180692	1.00[CEU][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs11180693	1.00[CEU][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs11180694	0.93[ASN][1000 genomes]
rs11180698	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11180699	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11180702	0.96[EUR][1000 genomes]
rs11180704	0.96[EUR][1000 genomes]
rs11180706	0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11180707	0.86[ASW][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes]
rs11180708	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11180718	0.89[JPT][hapmap]
rs1275563	0.88[EUR][1000 genomes]
rs12809551	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12819031	0.83[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12827587	0.91[EUR][1000 genomes]
rs12831736	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1299468	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1532294	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1565771	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17115738	1.00[CEU][hapmap]
rs17115780	0.86[ASW][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34148649	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34175277	0.93[ASN][1000 genomes]
rs34198570	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34666369	0.89[ASN][1000 genomes]
rs35319713	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35630793	0.89[ASN][1000 genomes]
rs35906325	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35916241	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4531531	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71460148	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71460149	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71460151	0.89[ASN][1000 genomes]
rs937245	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76208800-76221200	Enhancers	NHLF	lung
2	chr12:76215000-76220600	Enhancers	NHDF-Ad	bronchial
3	chr12:76215000-76223800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:76216000-76221200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:76216600-76223800	Weak transcription	Fetal Lung	lung
6	chr12:76217200-76220000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:76217200-76220200	Enhancers	NH-A	brain
8	chr12:76217200-76220400	Enhancers	Osteobl	bone
9	chr12:76217400-76220600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:76218000-76220800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:76218200-76220200	Enhancers	HSMMtube	muscle
12	chr12:76218400-76220400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:76218400-76220400	Enhancers	HSMM	muscle
14	chr12:76218600-76220400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:76218600-76220400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:76218600-76223400	Weak transcription	HepG2	liver
17	chr12:76218800-76220000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:76219000-76220200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:76219000-76220200	Enhancers	Hela-S3	cervix
20	chr12:76219000-76220400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:76219400-76220200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr12:76219600-76220800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:76219600-76221000	Enhancers	NHEK	skin
24	chr12:76219600-76221200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:76219600-76221200	Enhancers	HMEC	breast
26	chr12:76219800-76220000	Enhancers	Aorta	Aorta

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