Variant report

Variant	rs12155630
Chromosome Location	chr8:4817188-4817189
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10088688	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs10094549	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs10101412	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs10105362	1.00[CEU][hapmap];0.80[CHB][hapmap];0.89[JPT][hapmap]
rs10110891	0.87[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1011587	0.94[CEU][hapmap]
rs10503294	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10503296	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11136808	0.85[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs11136811	0.87[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs11136812	0.83[JPT][hapmap]
rs11136813	0.87[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs11778422	0.81[EUR][1000 genomes]
rs11984699	0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs12114470	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap]
rs12541020	0.82[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs12545626	0.89[CEU][hapmap]
rs12674915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13248218	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13254311	0.86[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs13264559	0.90[CEU][hapmap];0.85[TSI][hapmap]
rs13273154	0.90[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs2924719	0.84[CEU][hapmap]
rs2924720	0.90[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs2924721	0.81[EUR][1000 genomes]
rs2924723	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs2924724	0.90[CEU][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs2977732	0.85[CEU][hapmap]
rs4272399	0.82[EUR][1000 genomes]
rs4278171	0.84[CEU][hapmap];0.85[TSI][hapmap]
rs4295679	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4329292	0.90[CEU][hapmap]
rs4360313	1.00[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs4385481	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs4436145	0.82[EUR][1000 genomes]
rs4477045	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs4495447	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs4517142	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs4517143	0.90[CEU][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs4593565	0.90[CEU][hapmap]
rs4614018	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs4623447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4636228	0.90[ASN][1000 genomes]
rs4875426	0.90[CEU][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs4875427	0.90[CEU][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs6558950	0.85[ASN][1000 genomes]
rs6558951	0.90[CEU][hapmap];0.88[TSI][hapmap]
rs6986895	0.86[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs7005677	0.91[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs7464891	0.82[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv889976	chr8:4750266-4824335	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1028542	chr8:4758159-4824005	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1031026	chr8:4771072-5054326	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv889977	chr8:4802438-4820177	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv609898	chr8:4815582-4828351	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv609899	chr8:4815873-4828351	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4815800-4818000	Weak transcription	Fetal Brain Male	brain
2	chr8:4816800-4817200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:4816800-4817200	Enhancers	Esophagus	oesophagus
4	chr8:4817000-4817200	Flanking Active TSS	Fetal Heart	heart

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