Variant report

Variant	rs12648692
Chromosome Location	chr4:86618081-86618082
allele	A/G
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:56)

rs_ID	r²[population]
rs10007242	0.89[ASN][1000 genomes]
rs10017047	0.81[CHB][hapmap];0.89[ASN][1000 genomes]
rs10033273	0.81[CHB][hapmap];0.89[ASN][1000 genomes]
rs1031987	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1110777	0.88[ASN][1000 genomes]
rs11722392	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11731040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735639	0.80[CHB][hapmap];0.88[ASN][1000 genomes]
rs12513384	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs12644984	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12646641	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12647014	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12650494	1.00[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13112493	0.80[CHB][hapmap]
rs13128115	0.80[CHB][hapmap];0.88[ASN][1000 genomes]
rs13146939	0.81[CHB][hapmap];0.88[ASN][1000 genomes]
rs13152150	0.80[CHB][hapmap];0.88[ASN][1000 genomes]
rs1482084	0.88[ASN][1000 genomes]
rs1482091	1.00[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1482092	0.80[ASN][1000 genomes]
rs1482095	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17010599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010632	0.81[CHB][hapmap];0.88[ASN][1000 genomes]
rs17010697	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs17010839	1.00[CEU][hapmap]
rs1811576	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1871864	0.87[ASN][1000 genomes]
rs1871865	0.81[CHB][hapmap];0.88[ASN][1000 genomes]
rs2101135	0.88[ASN][1000 genomes]
rs2624023	0.80[ASN][1000 genomes]
rs36095037	0.88[ASN][1000 genomes]
rs41477846	0.80[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs4413396	0.80[CHB][hapmap];0.88[ASN][1000 genomes]
rs4455406	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4488930	0.88[ASN][1000 genomes]
rs4585295	0.88[ASN][1000 genomes]
rs57065351	0.88[EUR][1000 genomes]
rs6531852	0.88[ASN][1000 genomes]
rs6531854	0.88[CHB][hapmap];0.89[ASN][1000 genomes]
rs6531862	0.84[ASN][1000 genomes]
rs6531863	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6839040	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6845071	0.88[ASN][1000 genomes]
rs6853196	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72656252	0.84[ASN][1000 genomes]
rs7434773	0.89[ASN][1000 genomes]
rs7439720	0.88[CHB][hapmap];0.89[ASN][1000 genomes]
rs7661884	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7666211	0.88[ASN][1000 genomes]
rs7675688	0.82[EUR][1000 genomes]
rs7677064	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs7682971	1.00[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7685320	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7697134	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs876107	0.88[ASN][1000 genomes]
rs931195	0.87[CHB][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86591400-86619400	Weak transcription	Pancreas	Pancrea
2	chr4:86604200-86624000	Weak transcription	HSMM	muscle
3	chr4:86614400-86618800	Weak transcription	Primary B cells from cord blood	blood
4	chr4:86615000-86624200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:86615000-86624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:86615200-86618600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:86617400-86618200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:86617600-86618200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:86617600-86624000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr4:86617800-86618200	Enhancers	Stomach Mucosa	stomach
11	chr4:86617800-86618200	Enhancers	NHDF-Ad	bronchial
12	chr4:86617800-86620400	Enhancers	Primary monocytes fromperipheralblood	blood

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