Variant report

Variant	rs12130105
Chromosome Location	chr1:170357956-170357957
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1034185	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494487	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919349	0.90[ASN][1000 genomes]
rs10919378	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919379	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919382	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586686	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121358	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126109	0.90[ASN][1000 genomes]
rs12127149	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12128082	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12129359	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132288	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132402	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12135696	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137241	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138644	1.00[ASN][1000 genomes]
rs12139302	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141076	0.80[AMR][1000 genomes]
rs12141935	1.00[ASN][1000 genomes]
rs12143611	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402306	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12407889	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408130	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409985	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12732119	1.00[ASN][1000 genomes]
rs12734846	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12748912	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12753359	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332963	1.00[ASN][1000 genomes]
rs1332964	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17346122	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17346171	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350179	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17350305	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17350312	0.80[AMR][1000 genomes]
rs2095135	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28436845	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34161857	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34860969	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35084451	1.00[ASN][1000 genomes]
rs35833908	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4256872	1.00[ASN][1000 genomes]
rs4489621	0.90[ASN][1000 genomes]
rs4558042	1.00[ASN][1000 genomes]
rs4575137	1.00[ASN][1000 genomes]
rs4578264	1.00[ASN][1000 genomes]
rs6657395	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667077	0.90[ASN][1000 genomes]
rs6667462	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6684260	1.00[ASN][1000 genomes]
rs7516510	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534693	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537355	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv2756870	chr1:170315081-170413292	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv2758977	chr1:170315081-170413292	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv437269	chr1:170343289-170361172	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170357000-170358000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:170357400-170358000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:170357400-170358200	Enhancers	HMEC	breast
4	chr1:170357600-170358000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:170357600-170358000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:170357800-170358200	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links