Variant report

Variant	rs2047685
Chromosome Location	chr15:72009193-72009194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11858936	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437539	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12915432	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1501421	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604334	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16953738	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16956124	0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[ASN][1000 genomes]
rs16956129	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16956133	1.00[EUR][1000 genomes]
rs16956157	0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2047690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2134064	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2899771	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4328388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4365247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4776571	1.00[ASN][1000 genomes]
rs4777442	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4777444	1.00[ASN][1000 genomes]
rs4777449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56790826	0.88[ASN][1000 genomes]
rs57091071	0.88[ASN][1000 genomes]
rs57931860	0.91[ASN][1000 genomes]
rs73430234	1.00[EUR][1000 genomes]
rs73430296	0.91[ASN][1000 genomes]
rs8036340	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8041263	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872472	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs872475	0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[ASN][1000 genomes]
rs9302259	0.82[YRI][hapmap]
rs972708	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904334	chr15:71737376-72177659	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr15:71998000-72009200	Weak transcription	NHEK	skin
2	chr15:72000800-72023400	Weak transcription	Fetal Intestine Small	intestine
3	chr15:72001400-72009400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr15:72002400-72022600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr15:72002600-72022600	Weak transcription	Fetal Muscle Leg	muscle
6	chr15:72003200-72018000	Weak transcription	Ovary	ovary
7	chr15:72005800-72009400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:72005800-72024600	Weak transcription	Left Ventricle	heart
9	chr15:72008200-72009400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:72008200-72009400	Enhancers	Adipose Nuclei	Adipose
11	chr15:72008400-72009800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr15:72008400-72009800	Enhancers	HMEC	breast
13	chr15:72008400-72010000	Enhancers	NHLF	lung
14	chr15:72008400-72010200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:72008400-72010200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:72008600-72010000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:72008600-72010000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:72008600-72010800	Enhancers	Hela-S3	cervix
19	chr15:72008800-72009200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:72008800-72010200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:72009000-72009200	Enhancers	Lung	lung
22	chr15:72009000-72009800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:72009000-72009800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:72009000-72009800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:72009000-72009800	Enhancers	NHDF-Ad	bronchial
26	chr15:72009000-72010000	Enhancers	Muscle Satellite Cultured Cells	--

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