Variant report

Variant	rs1357139
Chromosome Location	chr2:213050781-213050782
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10048673	0.86[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs10048796	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs10166172	0.86[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap]
rs10184205	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs10190345	1.00[CHB][hapmap]
rs10196229	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs10206443	0.81[JPT][hapmap]
rs10804203	1.00[CHB][hapmap]
rs10932424	1.00[CHB][hapmap];0.89[CHD][hapmap]
rs10932426	1.00[CHB][hapmap]
rs10932427	1.00[CHB][hapmap]
rs10932428	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs11677623	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11691783	0.84[CHB][hapmap]
rs11693640	0.86[CHD][hapmap];0.90[JPT][hapmap]
rs12052282	0.84[JPT][hapmap]
rs12468821	1.00[CHB][hapmap]
rs12622947	0.86[CHB][hapmap]
rs12694268	0.85[CHB][hapmap]
rs13391312	0.86[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs13407289	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs13416059	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs13427258	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs13432680	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1402769	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1467273	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs1467275	1.00[CHB][hapmap]
rs1474258	1.00[CHB][hapmap]
rs1521646	0.90[JPT][hapmap]
rs1521649	0.86[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs1521659	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1879651	0.92[CHB][hapmap]
rs1915743	1.00[CHB][hapmap]
rs1915748	0.85[CHB][hapmap]
rs1996762	0.85[CHB][hapmap]
rs2049180	0.86[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs2090862	0.86[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs2103001	0.86[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs4145960	1.00[CHB][hapmap];0.96[CHD][hapmap]
rs4145961	1.00[CHB][hapmap]
rs6718075	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs6755027	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs7581884	1.00[CHB][hapmap]
rs7608095	1.00[CHB][hapmap];0.96[CHD][hapmap]
rs9288446	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs9288447	0.81[JPT][hapmap]
rs9288449	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs939227	0.93[CHB][hapmap]
rs9653257	0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs979042	0.86[CHD][hapmap]
rs9973372	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs9973520	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs9973523	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875806	chr2:212997024-213211067	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1001718	chr2:213047033-213155985	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1357139	PIKFYVE	cis	cerebellum	SCAN
rs1357139	BARD1	cis	cerebellum	SCAN

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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