Variant report

Variant	rs17706513
Chromosome Location	chr15:52377040-52377041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10518674	0.85[CEU][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap]
rs10851507	0.82[GIH][hapmap]
rs11070875	0.85[CEU][hapmap]
rs11070880	0.81[EUR][1000 genomes]
rs12050787	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12438375	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12439046	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2414127	0.83[GIH][hapmap]
rs2959283	0.80[TSI][hapmap]
rs36046047	0.85[CEU][hapmap];0.84[TSI][hapmap]
rs4627278	0.85[CEU][hapmap];0.82[GIH][hapmap];0.84[TSI][hapmap]
rs4775999	0.85[CEU][hapmap];0.82[GIH][hapmap];0.84[TSI][hapmap]
rs55931072	0.94[ASN][1000 genomes]
rs58510474	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs58555938	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7173725	0.92[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8034167	0.80[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription 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	23 gene(s)	inside rSNPs	diseases
4	nsv1039841	chr15:52357448-52381377	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1054372	chr15:52369078-52579464	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv542387	chr15:52369078-52579464	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52371400-52377400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:52371600-52378800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr15:52372800-52377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:52373000-52377400	Weak transcription	NHEK	skin
5	chr15:52373200-52378800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:52373400-52377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:52373400-52377400	Weak transcription	HMEC	breast
8	chr15:52375600-52377800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr15:52376000-52377400	Weak transcription	HSMMtube	muscle
10	chr15:52376200-52377600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr15:52376200-52377600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:52376400-52377400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:52376400-52377400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:52376800-52377400	Weak transcription	GM12878-XiMat	blood
15	chr15:52377000-52377800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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