Variant report

Variant	rs12130132
Chromosome Location	chr1:154880386-154880387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:154877727..154880578-chr1:154909694..154912244,2	MCF-7	breast:
2	chr1:154880263..154882530-chr1:154985215..154987910,2	K562	blood:
3	chr1:154879379..154881257-chr1:154944296..154946736,2	MCF-7	breast:
4	chr1:154880267..154882308-chr1:154975030..154977553,2	MCF-7	breast:
5	chr1:154879702..154880586-chr1:154916023..154916700,2	MCF-7	breast:
6	chr1:154880349..154881948-chr1:154884492..154887038,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PMVK-3	chr1:154880039-154883076	expRegAs_chr1_16333_-

No data

Variant related genes	Relation type
ENSG00000270361	Chromatin interaction
ENSG00000160685	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1007170	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10796934	0.88[ASN][1000 genomes]
rs10796935	1.00[ASN][1000 genomes]
rs10908444	0.83[ASN][1000 genomes]
rs10908445	0.88[ASN][1000 genomes]
rs10908446	0.95[ASN][1000 genomes]
rs10908447	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10908448	0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1109815	0.97[ASN][1000 genomes]
rs11264276	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11264280	0.84[ASN][1000 genomes]
rs11264281	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11264282	0.95[ASN][1000 genomes]
rs11264283	0.95[ASN][1000 genomes]
rs11264284	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11264290	0.97[ASN][1000 genomes]
rs12036859	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12069356	0.88[ASN][1000 genomes]
rs12095061	0.85[CEU][hapmap];0.97[ASN][1000 genomes]
rs12144978	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12406380	0.82[ASN][1000 genomes]
rs1580943	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs1976559	1.00[ASN][1000 genomes]
rs1977879	1.00[ASN][1000 genomes]
rs2061690	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2102423	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2135219	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2174507	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2335407	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2335408	0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2335409	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3738026	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs4240874	1.00[ASN][1000 genomes]
rs4240875	1.00[ASN][1000 genomes]
rs4339857	1.00[ASN][1000 genomes]
rs4578216	0.90[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs4845398	0.88[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs4845399	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4845400	0.95[ASN][1000 genomes]
rs4845401	0.81[AFR][1000 genomes]
rs4845677	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs4845678	0.95[ASN][1000 genomes]
rs4845679	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4845680	0.95[ASN][1000 genomes]
rs4845681	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4845682	0.97[ASN][1000 genomes]
rs4845683	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4845685	0.95[ASN][1000 genomes]
rs4845687	0.97[ASN][1000 genomes]
rs4845688	1.00[ASN][1000 genomes]
rs4845689	1.00[ASN][1000 genomes]
rs4845690	0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4845691	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845693	0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4845694	0.97[ASN][1000 genomes]
rs4845695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4845696	0.97[ASN][1000 genomes]
rs58629129	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6656435	0.97[ASN][1000 genomes]
rs6656494	0.83[ASN][1000 genomes]
rs6669791	0.86[ASN][1000 genomes]
rs6674853	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6683557	0.90[ASN][1000 genomes]
rs6686873	0.97[ASN][1000 genomes]
rs6699043	0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6699080	0.80[CEU][hapmap]
rs705094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs72702224	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7528532	0.95[ASN][1000 genomes]
rs7531728	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs7544528	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7553195	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs869506	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs877343	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs883718	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs906593	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9793588	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv29982	chr1:154818353-154882544	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv432942	chr1:154818353-154903047	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464073	chr1:154837796-154904840	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547960	chr1:154837796-154904840	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154876600-154880400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:154879200-154893200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:154879400-154882400	Weak transcription	Spleen	Spleen
4	chr1:154879800-154881000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:154879800-154894800	Weak transcription	Aorta	Aorta

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