Variant report

Variant	rs12692644
Chromosome Location	chr2:151088695-151088696
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10170246	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10174836	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10184785	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10190277	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10195650	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10207680	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1031212	0.88[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1031213	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1031214	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1031215	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1031216	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10930038	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1155072	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11682154	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11687868	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11694747	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11886061	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11886070	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12692632	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12692633	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12986816	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12996112	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13024074	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13024803	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13028397	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13419478	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13430267	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1348741	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1374157	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2376603	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4260269	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4283445	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4295034	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4296450	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4318407	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4434022	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4435478	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4461280	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4464296	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4481007	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4560135	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4597551	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4597552	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4600677	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4629182	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4667341	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4667343	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62170020	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6432680	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6432682	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6432683	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6432700	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6650776	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6733918	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7422660	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7557353	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7564853	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7566441	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7569176	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7575612	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7580941	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7581265	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7581723	0.86[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7586530	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7592745	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7600792	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7604483	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9678528	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs974902	0.88[EUR][1000 genomes];0.94[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	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers 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 lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv834412	chr2:151014270-151116638	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv2968	chr2:151076820-151089705	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151083200-151091200	Weak transcription	Fetal Brain Female	brain
2	chr2:151085600-151090600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:151085800-151090400	Weak transcription	Fetal Lung	lung
4	chr2:151085800-151090800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:151086000-151090400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:151086200-151089600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:151086400-151089600	Weak transcription	NHDF-Ad	bronchial
8	chr2:151086400-151090400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:151086800-151089600	Enhancers	Stomach Mucosa	stomach
10	chr2:151088000-151091200	Enhancers	Brain Germinal Matrix	brain
11	chr2:151088200-151092800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:151088400-151089400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:151088400-151090800	Weak transcription	HUVEC	blood vessel

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