Variant report

Variant	rs17131473
Chromosome Location	chr1:71340070-71340071
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10889891	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10889892	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11209705	0.93[ASN][1000 genomes]
rs11803673	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11810467	0.93[ASN][1000 genomes]
rs12023582	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12026099	0.95[ASN][1000 genomes]
rs12026456	0.93[ASN][1000 genomes]
rs12034333	0.94[ASN][1000 genomes]
rs12035395	0.90[JPT][hapmap]
rs12040186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12041247	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs12048245	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs12048393	0.93[CHB][hapmap]
rs12049445	0.93[ASN][1000 genomes]
rs12049500	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12141116	0.93[CHB][hapmap]
rs1335002	0.80[ASN][1000 genomes]
rs1591386	0.93[CHB][hapmap];0.80[ASN][1000 genomes]
rs17131476	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17131485	1.00[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.95[ASN][1000 genomes]
rs17131488	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs1889598	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1932050	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2068652	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.95[ASN][1000 genomes]
rs2152121	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2152122	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2152123	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2152126	0.93[CHB][hapmap];0.80[JPT][hapmap]
rs2782768	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2782769	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2782770	0.80[ASN][1000 genomes]
rs2782771	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2782772	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2782786	0.93[CHB][hapmap]
rs2782787	0.93[CHB][hapmap]
rs2782788	0.93[CHB][hapmap]
rs2820513	0.93[CHB][hapmap]
rs2820540	1.00[EUR][1000 genomes]
rs2820541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2820542	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34087524	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34745168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35615554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36021131	0.95[ASN][1000 genomes]
rs55884889	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6661453	0.95[ASN][1000 genomes]
rs6684573	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs74086786	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74086973	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74086974	0.94[ASN][1000 genomes]
rs74086976	0.94[ASN][1000 genomes]
rs74086980	0.94[ASN][1000 genomes]
rs74086985	0.91[ASN][1000 genomes]
rs74086993	0.91[ASN][1000 genomes]
rs915220	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[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	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830148	chr1:71310366-71483932	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71330800-71343200	Weak transcription	K562	blood
2	chr1:71338800-71340400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:71339000-71340400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:71339000-71341000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:71339400-71340200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:71339400-71340800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:71339600-71340800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:71339800-71340200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr1:71339800-71340200	Flanking Active TSS	NHEK	skin
10	chr1:71339800-71340600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:71339800-71341000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:71339800-71341000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:71339800-71341000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:71339800-71341000	Enhancers	Fetal Heart	heart
15	chr1:71339800-71341400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:71339800-71341400	Enhancers	Aorta	Aorta
17	chr1:71339800-71341600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:71340000-71340200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:71340000-71340400	Weak transcription	Right Atrium	heart
20	chr1:71340000-71340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:71340000-71341000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:71340000-71341000	Enhancers	NHDF-Ad	bronchial

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