Variant report

Variant	rs1402121
Chromosome Location	chr2:50596607-50596608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:50591468..50594291-chr2:50594747..50597422,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10187911	0.83[JPT][hapmap]
rs10204268	0.82[ASN][1000 genomes]
rs10210298	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11903097	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12053271	0.83[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.84[ASN][1000 genomes]
rs12474009	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs12616829	0.81[ASN][1000 genomes]
rs12616901	0.80[ASN][1000 genomes]
rs12620185	0.84[ASN][1000 genomes]
rs13404855	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13407780	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1520445	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1543973	0.86[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs17040490	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17040542	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs17040552	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs17040606	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1879320	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1915170	0.83[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs1915172	0.81[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1969351	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1972311	0.94[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2139629	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2176853	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2176854	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2176855	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2882692	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4450643	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4493303	0.81[CEU][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap]
rs4971557	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4971668	0.85[ASN][1000 genomes]
rs4971670	0.81[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs5019239	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6727675	0.94[ASN][1000 genomes]
rs7560420	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7560724	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7575728	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7599052	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs9309181	0.87[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv948548	chr2:50569117-50695100	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3330444	chr2:50583350-50599057	Enhancers Weak transcription	Chromatin interactive region	n/a	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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