Variant report

Variant	rs4142511
Chromosome Location	chr2:50528752-50528753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10194978	0.86[JPT][hapmap]
rs1104979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs1104980	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs11125298	0.86[JPT][hapmap]
rs1113099	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11895152	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12622479	0.91[CHB][hapmap]
rs1402170	0.86[CHB][hapmap]
rs1474078	0.86[JPT][hapmap]
rs1517828	0.81[ASN][1000 genomes]
rs1517830	0.81[ASN][1000 genomes]
rs1517831	0.86[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs1520525	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1554424	0.86[JPT][hapmap]
rs17040451	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17040458	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1712880	0.83[JPT][hapmap]
rs1712891	0.83[JPT][hapmap]
rs1715993	0.83[JPT][hapmap]
rs1879338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2037394	0.86[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs2037395	0.86[CHB][hapmap]
rs2138912	0.82[ASN][1000 genomes]
rs2351513	0.82[ASN][1000 genomes]
rs35900029	0.80[ASN][1000 genomes]
rs493879	0.86[JPT][hapmap]
rs4971663	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60450811	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6545160	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6545161	1.00[CHB][hapmap];0.96[JPT][hapmap]
rs6722290	0.83[ASN][1000 genomes]
rs6748646	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs72874413	0.81[ASN][1000 genomes]
rs72874415	0.81[ASN][1000 genomes]
rs7422036	0.91[CHB][hapmap]
rs7592085	1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs7592364	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7601648	0.86[JPT][hapmap]
rs7605803	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs939426	0.87[JPT][hapmap]
rs939428	1.00[CHB][hapmap];1.00[JPT][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	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1000087	chr2:50501395-50581229	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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