Variant report

Variant	rs12810244
Chromosome Location	chr12:76249019-76249020
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	chr12:76244731..76246265-chr12:76247627..76249757,2	K562	blood:
2	chr12:76248670..76251814-chr12:76255038..76258273,3	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10431516	0.90[ASN][1000 genomes]
rs10431517	0.89[ASN][1000 genomes]
rs10431594	0.90[ASN][1000 genomes]
rs10431595	0.90[ASN][1000 genomes]
rs11180692	0.89[JPT][hapmap]
rs11180693	0.89[JPT][hapmap]
rs11180699	0.82[ASN][1000 genomes]
rs11180702	0.90[ASN][1000 genomes]
rs11180704	0.90[ASN][1000 genomes]
rs11180706	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11180707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11180708	0.92[ASN][1000 genomes]
rs11180715	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11180717	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11180718	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1275563	0.82[ASN][1000 genomes]
rs12819031	0.85[JPT][hapmap]
rs12822358	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12827587	0.92[ASN][1000 genomes]
rs12831736	0.90[ASN][1000 genomes]
rs1532294	0.90[ASN][1000 genomes]
rs1565771	0.90[ASN][1000 genomes]
rs17115738	0.89[JPT][hapmap]
rs17115780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs34175277	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34666369	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35319713	0.90[ASN][1000 genomes]
rs35630793	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35906325	0.90[ASN][1000 genomes]
rs35916241	0.90[ASN][1000 genomes]
rs4531531	0.92[ASN][1000 genomes]
rs71460149	0.90[ASN][1000 genomes]
rs71460151	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[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	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
3	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
4	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
5	nsv519546	chr12:76247543-76255406	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 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	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
2	chr12:76241600-76251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:76243400-76253800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:76244000-76249200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:76244600-76249200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:76245000-76252200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:76245200-76256400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:76246000-76255400	Weak transcription	A549	lung
9	chr12:76246400-76249800	Enhancers	NHEK	skin
10	chr12:76247200-76249200	Enhancers	Fetal Muscle Leg	muscle
11	chr12:76247800-76249800	Weak transcription	Ovary	ovary
12	chr12:76248400-76249400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:76248400-76249400	Enhancers	Osteobl	bone
14	chr12:76248400-76250600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:76248400-76250600	Enhancers	NHDF-Ad	bronchial
16	chr12:76248600-76249200	Enhancers	NHLF	lung
17	chr12:76248600-76249400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:76248600-76249600	Weak transcription	Fetal Lung	lung
19	chr12:76248600-76250600	Enhancers	Adipose Nuclei	Adipose
20	chr12:76248800-76253600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:76248800-76253800	Weak transcription	HSMMtube	muscle
22	chr12:76249000-76253000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:76249000-76253400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:76249000-76253600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:76249000-76253600	Weak transcription	HMEC	breast
26	chr12:76249000-76256200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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