Variant report

Variant	rs12119275
Chromosome Location	chr1:84517261-84517262
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84516996..84518865-chr1:84523452..84525021,2	MCF-7	breast:
2	chr1:84515190..84517358-chr1:84542033..84543983,2	K562	blood:
3	chr1:84506312..84509081-chr1:84514938..84517601,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142875	Chromatin interaction
ENSG00000271576	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10127737	0.93[CHB][hapmap]
rs10493741	0.87[CHB][hapmap]
rs10493744	0.87[CHB][hapmap]
rs10493750	0.81[CHD][hapmap];0.84[JPT][hapmap]
rs11163861	0.87[CHB][hapmap]
rs11163862	0.94[CHB][hapmap]
rs11163865	0.94[CHB][hapmap]
rs11163866	0.81[CEU][hapmap];0.94[CHB][hapmap]
rs11163867	0.94[CHB][hapmap]
rs11163868	0.87[CHB][hapmap]
rs11163874	0.86[CHB][hapmap]
rs11163875	0.87[CHB][hapmap]
rs11163877	0.93[CHB][hapmap]
rs11163878	0.94[CHB][hapmap]
rs11163884	0.89[EUR][1000 genomes]
rs11163885	0.89[EUR][1000 genomes]
rs11163886	0.89[EUR][1000 genomes]
rs11163887	0.87[EUR][1000 genomes]
rs11163898	0.83[JPT][hapmap]
rs11163900	0.81[CHD][hapmap];0.84[JPT][hapmap]
rs12070547	0.84[ASN][1000 genomes]
rs12070578	0.94[CHB][hapmap]
rs12118434	0.87[CHB][hapmap]
rs12121175	0.96[CEU][hapmap];0.94[CHB][hapmap];0.89[EUR][1000 genomes]
rs12129674	0.91[YRI][hapmap]
rs12132032	0.83[JPT][hapmap]
rs12135028	0.87[CHB][hapmap]
rs12139191	0.94[CHB][hapmap]
rs12141272	0.94[CHB][hapmap]
rs12145258	0.85[CHB][hapmap]
rs12145516	0.89[EUR][1000 genomes]
rs12146038	0.87[CHB][hapmap]
rs12402130	0.89[EUR][1000 genomes]
rs12403631	0.87[CHB][hapmap]
rs12404263	0.81[CHD][hapmap]
rs12405120	0.81[CHD][hapmap];0.84[JPT][hapmap]
rs12407641	0.86[CHB][hapmap]
rs12410617	0.87[CHB][hapmap]
rs12723239	0.85[CEU][hapmap];0.93[CHB][hapmap]
rs12724598	0.84[CHD][hapmap];0.84[JPT][hapmap]
rs12730621	0.94[CHB][hapmap]
rs12746741	0.84[CHD][hapmap];0.88[JPT][hapmap];0.84[TSI][hapmap];0.83[ASN][1000 genomes]
rs12748268	0.87[CHB][hapmap]
rs12749350	0.94[CHB][hapmap]
rs12759527	0.87[CHB][hapmap]
rs1324484	0.86[CHB][hapmap]
rs1324486	0.94[CHB][hapmap]
rs1359331	0.94[CHB][hapmap]
rs1475263	0.87[CHB][hapmap]
rs1536166	0.87[CHB][hapmap]
rs1570691	0.94[CHB][hapmap]
rs1602999	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17099118	0.87[CHB][hapmap];0.82[CHD][hapmap]
rs1871924	0.94[CHB][hapmap]
rs1886769	0.88[EUR][1000 genomes]
rs1952065	0.94[CHB][hapmap]
rs1952066	0.87[CHB][hapmap]
rs2024591	0.94[CHB][hapmap]
rs2147950	0.96[CEU][hapmap];0.94[CHB][hapmap];0.81[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs2389617	0.94[CHB][hapmap]
rs35452337	0.82[ASN][1000 genomes]
rs3861699	0.84[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs3903924	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3915908	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4258241	0.87[CHB][hapmap]
rs4907186	0.94[CHB][hapmap]
rs4907189	0.87[CHB][hapmap]
rs4907191	0.87[CHB][hapmap]
rs6658559	0.96[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs6694752	0.94[CHB][hapmap]
rs6699501	0.93[CHB][hapmap]
rs6703382	0.87[CHB][hapmap]
rs6703493	0.86[CHB][hapmap]
rs67276144	0.84[ASN][1000 genomes]
rs7551787	0.94[CHB][hapmap]
rs882897	0.94[CHB][hapmap]
rs942848	0.87[CHB][hapmap]
rs953197	0.80[ASW][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap];0.81[ASN][1000 genomes]
rs970318	0.89[ASW][hapmap]
rs980417	0.94[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1732	chr1:84499098-84544635	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv508360	chr1:84500230-84524997	Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3498832	chr1:84514725-84525109	Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3498833	chr1:84514725-84525109	Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2479910	chr1:84516210-84524807	Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv988476	chr1:84516695-84526005	Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv435898	chr1:84516977-84525237	Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2456007	chr1:84517004-84525140	Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv436189	chr1:84517114-84524632	Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv511703	chr1:84517154-84525538	Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv871655	chr1:84517261-84550849	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84516200-84517800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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