Variant report

Variant	rs4851254
Chromosome Location	chr2:100762937-100762938
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100761253..100763849-chr2:100766044..100767965,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10185059	0.81[ASN][1000 genomes]
rs10185510	0.81[ASN][1000 genomes]
rs10197987	0.80[ASN][1000 genomes]
rs11123808	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11123809	0.81[ASN][1000 genomes]
rs11123810	0.81[ASN][1000 genomes]
rs11123811	0.80[ASN][1000 genomes]
rs11123812	0.81[ASN][1000 genomes]
rs11123813	0.81[ASN][1000 genomes]
rs11677607	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11679078	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11680485	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11680586	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11681966	0.81[ASN][1000 genomes]
rs11682173	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11686599	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11689956	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11690905	0.81[ASN][1000 genomes]
rs11691486	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11692215	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11891046	0.80[ASN][1000 genomes]
rs11899489	0.81[ASN][1000 genomes]
rs11900482	0.81[ASN][1000 genomes]
rs12712064	0.81[ASN][1000 genomes]
rs12712065	0.80[ASN][1000 genomes]
rs12712067	0.85[YRI][hapmap];0.82[ASN][1000 genomes]
rs12712068	0.81[ASN][1000 genomes]
rs12712069	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12712071	0.81[ASN][1000 genomes]
rs12712072	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12987209	0.81[ASN][1000 genomes]
rs12987212	0.81[ASN][1000 genomes]
rs13000759	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13003982	0.81[ASN][1000 genomes]
rs13010436	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13011181	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13011874	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13019618	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13022707	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13028981	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13032454	0.81[ASN][1000 genomes]
rs13415465	0.81[ASN][1000 genomes]
rs13415583	0.81[ASN][1000 genomes]
rs1370353	0.81[ASN][1000 genomes]
rs1821826	0.81[ASN][1000 genomes]
rs1821827	0.81[ASN][1000 genomes]
rs2009094	0.81[ASN][1000 genomes]
rs2009095	0.81[ASN][1000 genomes]
rs3748927	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4850920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4850921	0.86[YRI][hapmap];0.82[ASN][1000 genomes]
rs4851252	0.81[ASN][1000 genomes]
rs4851253	0.81[ASN][1000 genomes]
rs4851256	0.80[ASN][1000 genomes]
rs4851257	0.81[ASN][1000 genomes]
rs4851262	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6713524	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7583067	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7590378	0.80[ASN][1000 genomes]
rs7593261	0.80[ASN][1000 genomes]
rs7596385	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv582530	chr2:100739970-100774287	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv527481	chr2:100753490-100763006	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100746200-100764800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:100758800-100765600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:100759000-100763000	Weak transcription	Adipose Nuclei	Adipose
4	chr2:100759200-100763400	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:100760000-100765400	Weak transcription	Thymus	Thymus

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