Variant report

Variant	rs10519356
Chromosome Location	chr2:234819199-234819200
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	2:234818955-234819541..2:234840450-234842402	H1-hESC	embryonic stem cell:	embryo
2	2:234543708-234558325..2:234818955-234819541	H1-hESC	embryonic stem cell:	embryo
3	2:234625307-234630376..2:234818955-234819541	H1-hESC	embryonic stem cell:	embryo
4	2:234818955-234819541..2:234825998-234827518	GM12878	blood:

Variant related genes	Relation type
ENSG00000144481	Chromatin interaction
ENSG00000244474	Chromatin interaction
ENSG00000242515	Chromatin interaction
ENSG00000234143	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1003756	1.00[CEU][hapmap];0.90[GIH][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs1003757	1.00[CEU][hapmap];0.89[GIH][hapmap];0.85[EUR][1000 genomes]
rs10170647	0.86[GIH][hapmap];0.81[MEX][hapmap]
rs10172275	0.92[ASN][1000 genomes]
rs10180847	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap]
rs10203291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12476852	0.86[GIH][hapmap];0.81[MEX][hapmap]
rs13396996	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17864744	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2017655	0.85[EUR][1000 genomes]
rs2108806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2108807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4497869	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4663984	0.86[EUR][1000 genomes]
rs4663985	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.92[ASN][1000 genomes]
rs4663987	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs73118767	0.88[ASN][1000 genomes]
rs735551	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs735552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs737635	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7570755	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7577157	0.81[GIH][hapmap]
rs7582832	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7583713	0.85[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 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
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