Variant report

Variant	rs17115844
Chromosome Location	chr1:57934206-57934207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10159302	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10493218	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10493224	0.85[ASW][hapmap];0.89[MKK][hapmap]
rs11207023	1.00[JPT][hapmap]
rs11800574	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11803541	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11805025	1.00[JPT][hapmap]
rs11807631	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12094275	1.00[EUR][1000 genomes]
rs1341312	1.00[GIH][hapmap]
rs1417761	1.00[GIH][hapmap]
rs1424471	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1524718	1.00[GIH][hapmap]
rs169169	1.00[EUR][1000 genomes]
rs17096836	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17115713	1.00[JPT][hapmap]
rs17115722	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17115739	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17115757	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17115765	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17115767	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17115834	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17838097	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs269041	1.00[EUR][1000 genomes]
rs269043	1.00[EUR][1000 genomes]
rs269047	1.00[EUR][1000 genomes]
rs269053	1.00[EUR][1000 genomes]
rs269055	1.00[EUR][1000 genomes]
rs269056	1.00[EUR][1000 genomes]
rs2691444	1.00[GIH][hapmap]
rs2691445	1.00[GIH][hapmap]
rs2691447	1.00[GIH][hapmap]
rs2691455	1.00[GIH][hapmap]
rs2793624	1.00[GIH][hapmap]
rs2793641	1.00[GIH][hapmap]
rs2805850	1.00[GIH][hapmap]
rs2805873	1.00[CHB][hapmap]
rs3738552	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3844040	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3850553	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs475078	1.00[EUR][1000 genomes]
rs486804	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4912243	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs497367	1.00[EUR][1000 genomes]
rs507466	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs523282	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs534715	1.00[EUR][1000 genomes]
rs537659	1.00[EUR][1000 genomes]
rs539257	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs566739	1.00[JPT][hapmap]
rs566802	1.00[EUR][1000 genomes]
rs57855581	1.00[EUR][1000 genomes]
rs58121843	1.00[EUR][1000 genomes]
rs59240973	1.00[ASN][1000 genomes]
rs60825740	1.00[EUR][1000 genomes]
rs6657926	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72909281	1.00[ASN][1000 genomes]
rs72909285	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909294	0.85[AFR][1000 genomes]
rs72909297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909300	0.85[AFR][1000 genomes]
rs72911219	1.00[EUR][1000 genomes]
rs7541150	1.00[JPT][hapmap]
rs7548078	1.00[EUR][1000 genomes]
rs947241	1.00[GIH][hapmap]

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	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 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	chr1:57930800-57934800	Weak transcription	NHLF	lung
2	chr1:57931000-57934400	Weak transcription	Hela-S3	cervix
3	chr1:57931000-57935200	Weak transcription	Fetal Brain Female	brain
4	chr1:57932800-57942400	Weak transcription	Stomach Mucosa	stomach
5	chr1:57933000-57937000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:57933200-57934800	Enhancers	Fetal Brain Male	brain
7	chr1:57933200-57935800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:57933200-57937000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:57933600-57937000	Enhancers	NHDF-Ad	bronchial
10	chr1:57933800-57936400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:57933800-57936400	Enhancers	NH-A	brain
12	chr1:57934000-57934600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:57934000-57935000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:57934000-57936600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:57934200-57934600	Weak transcription	Right Atrium	heart

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