Variant report

Variant	rs4242462
Chromosome Location	chr8:51575056-51575057
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:116959143..116962126-chr8:51573809..51576471,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203865	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10087228	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10097209	0.81[ASN][1000 genomes]
rs10097404	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10099033	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs10101076	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10110050	0.96[ASN][1000 genomes]
rs10111045	0.91[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes]
rs1018207	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10216649	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs10429378	0.96[ASN][1000 genomes]
rs10958023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10958026	0.96[ASN][1000 genomes]
rs10958061	0.81[ASN][1000 genomes]
rs10958065	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.81[ASN][1000 genomes]
rs10958066	0.81[ASN][1000 genomes]
rs10958080	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap]
rs10958115	0.92[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap]
rs10958117	0.92[CEU][hapmap]
rs11775633	0.92[CEU][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap]
rs11785968	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11986411	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs11997970	0.96[ASN][1000 genomes]
rs12681280	0.81[ASN][1000 genomes]
rs12681303	0.81[ASN][1000 genomes]
rs13250468	0.94[ASN][1000 genomes]
rs13251712	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs13251980	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13252863	0.85[CEU][hapmap]
rs13254513	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs13263172	0.92[ASN][1000 genomes]
rs13269724	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap]
rs13273663	0.96[CEU][hapmap];0.90[JPT][hapmap]
rs1396377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1472907	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1483642	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs1508621	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1508622	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.81[ASN][1000 genomes]
rs1508623	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1567311	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.83[ASN][1000 genomes]
rs1848437	0.82[ASN][1000 genomes]
rs1911830	0.84[CEU][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs1911835	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1911836	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2202797	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2271203	0.90[JPT][hapmap]
rs2392761	0.81[ASN][1000 genomes]
rs28470779	0.83[ASN][1000 genomes]
rs28647321	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28815525	0.81[ASN][1000 genomes]
rs34486025	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34871864	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs35521388	0.81[ASN][1000 genomes]
rs3999808	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4422788	0.92[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap]
rs4873153	0.96[ASN][1000 genomes]
rs4873155	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.87[ASN][1000 genomes]
rs6473292	0.88[ASN][1000 genomes]
rs6473319	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs6473337	0.84[CEU][hapmap];0.91[YRI][hapmap]
rs66730072	0.81[ASN][1000 genomes]
rs67729017	0.84[ASN][1000 genomes]
rs6987633	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6988562	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap]
rs6988854	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap]
rs6991518	0.86[ASN][1000 genomes]
rs6992341	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs6992551	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs6999211	0.96[ASN][1000 genomes]
rs7002119	0.85[ASN][1000 genomes]
rs7009895	0.83[ASN][1000 genomes]
rs7011647	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.81[ASN][1000 genomes]
rs7012338	0.86[ASN][1000 genomes]
rs7013183	0.81[ASN][1000 genomes]
rs7013366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7018197	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs717509	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs7460470	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7812344	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7816024	0.95[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap]
rs7822224	0.88[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7829079	0.81[ASN][1000 genomes]
rs7831651	0.92[CEU][hapmap]
rs7834256	0.81[ASN][1000 genomes]
rs7834585	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7844393	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7845831	0.81[ASN][1000 genomes]
rs7846699	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap]
rs906656	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv429914	chr8:51371447-51617647	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv531502	chr8:51390997-51703556	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3514165	chr8:51416583-51923545	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3514166	chr8:51416583-51923545	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv890873	chr8:51462163-51612641	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1027452	chr8:51525439-51725489	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51570200-51595200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51571800-51575400	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links