Variant report

Variant	rs12131115
Chromosome Location	chr1:114023105-114023106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11102629	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11102646	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11578447	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11579386	0.87[CEU][hapmap]
rs12117465	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs12117919	0.93[EUR][1000 genomes]
rs12119281	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12125741	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12127683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12130729	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12130763	1.00[EUR][1000 genomes]
rs12134802	0.89[EUR][1000 genomes]
rs12135714	0.89[EUR][1000 genomes]
rs12144505	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs12145834	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17031640	0.87[CEU][hapmap]
rs17031645	0.87[CEU][hapmap]
rs17031648	0.87[CEU][hapmap]
rs17448063	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs17461007	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17461231	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17507884	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1936931	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2359415	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55710846	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6537788	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.96[EUR][1000 genomes]
rs6671518	0.87[CEU][hapmap]
rs6696459	0.87[CEU][hapmap]
rs7514186	0.87[CEU][hapmap]
rs7528311	0.87[CEU][hapmap]
rs7533429	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7555259	0.87[CEU][hapmap]

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	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv3444669	chr1:113995959-114038884	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114021400-114023400	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr1:114022000-114031000	Weak transcription	Gastric	stomach
3	chr1:114022600-114023200	Enhancers	Hela-S3	cervix
4	chr1:114022600-114023400	Enhancers	HMEC	breast
5	chr1:114022800-114023200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:114022800-114023200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:114022800-114023200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:114022800-114023200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:114022800-114023200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:114022800-114023200	ZNF genes & repeats	Liver	Liver
11	chr1:114022800-114023600	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr1:114023000-114023200	ZNF genes & repeats	Pancreas	Pancrea
13	chr1:114023000-114027800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:114023000-114030800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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