Variant report

Variant	rs12405994
Chromosome Location	chr1:76435420-76435421
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76434414..76437432-chr1:76439336..76442369,3	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10732724	0.81[JPT][hapmap]
rs11161887	0.82[CHB][hapmap];0.80[CHD][hapmap];0.81[JPT][hapmap]
rs11162053	0.97[ASN][1000 genomes]
rs11162066	1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs1144328	1.00[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap]
rs1144331	0.81[JPT][hapmap]
rs1144333	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1144337	0.81[JPT][hapmap];0.87[TSI][hapmap]
rs1144342	0.81[JPT][hapmap]
rs1146642	1.00[YRI][hapmap]
rs1146645	1.00[CEU][hapmap]
rs1146647	1.00[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs1146648	0.83[CHD][hapmap]
rs1146649	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs1146651	0.81[JPT][hapmap]
rs1146652	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs12064158	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs12076093	0.83[CHD][hapmap]
rs12095069	0.97[ASN][1000 genomes]
rs12401729	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap]
rs12402230	0.84[ASN][1000 genomes]
rs12402347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410724	0.97[ASN][1000 genomes]
rs1251272	0.83[CHD][hapmap];0.80[JPT][hapmap]
rs1251274	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1251531	0.87[ASN][1000 genomes]
rs1251539	0.95[ASN][1000 genomes]
rs1251550	0.87[ASN][1000 genomes]
rs1251551	0.87[ASN][1000 genomes]
rs1251556	0.95[ASN][1000 genomes]
rs1251560	0.94[ASN][1000 genomes]
rs1251579	0.87[ASN][1000 genomes]
rs1251580	0.87[ASN][1000 genomes]
rs1251581	0.84[ASN][1000 genomes]
rs1251587	0.84[ASN][1000 genomes]
rs1251588	0.87[ASN][1000 genomes]
rs1251591	0.86[ASN][1000 genomes]
rs1251594	0.86[ASN][1000 genomes]
rs12567390	0.80[CHB][hapmap]
rs12703	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs12732495	0.86[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.81[ASN][1000 genomes]
rs1340684	0.96[ASN][1000 genomes]
rs1361487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1417402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438175	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1438176	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1498313	0.82[CHD][hapmap]
rs1658737	0.87[ASN][1000 genomes]
rs1689271	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs17097681	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs17097695	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17097821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17097836	0.97[ASN][1000 genomes]
rs17097837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17097841	0.97[ASN][1000 genomes]
rs17097863	0.97[ASN][1000 genomes]
rs17097864	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17097867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1770876	0.87[ASN][1000 genomes]
rs1796799	0.87[ASN][1000 genomes]
rs1796812	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1873894	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1890967	0.97[ASN][1000 genomes]
rs1938321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1938322	0.87[ASN][1000 genomes]
rs1938323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2047435	0.83[CHD][hapmap]
rs2066213	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2307077	0.81[JPT][hapmap]
rs2792664	0.87[ASN][1000 genomes]
rs34574524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3765682	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap]
rs3920847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4949681	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4949685	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5745321	1.00[YRI][hapmap]
rs5745327	0.81[JPT][hapmap]
rs5745343	0.81[JPT][hapmap];0.87[TSI][hapmap]
rs5745354	0.86[JPT][hapmap];0.87[TSI][hapmap]
rs5745392	0.81[JPT][hapmap]
rs5745451	0.90[CHD][hapmap];0.81[JPT][hapmap]
rs5745465	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap]
rs5745523	0.81[JPT][hapmap]
rs5745542	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs5745546	0.81[JPT][hapmap]
rs58722308	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7418941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521538	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7524665	0.86[ASN][1000 genomes]
rs931506	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76434200-76437000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:76435000-76436000	Enhancers	NHEK	skin
3	chr1:76435000-76436400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:76435000-76436400	Enhancers	HMEC	breast
5	chr1:76435200-76435800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:76435200-76436200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:76435400-76435800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:76435400-76435800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:76435400-76436200	Weak transcription	HUVEC	blood vessel

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