Variant report

Variant	rs2950648
Chromosome Location	chr2:182552583-182552584
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	chr2:182544304..182548457-chr2:182549208..182552987,3	MCF-7	breast:
2	chr2:182541170..182543258-chr2:182550470..182553269,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGA4-1	chr2:182546597-182554169	NONHSAT075881

Variant related genes	Relation type
ENSG00000162992	Chromatin interaction
ENSG00000234595	Chromatin interaction
ENSG00000188452	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1000764	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10207791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208667	0.86[EUR][1000 genomes]
rs10930976	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs13398869	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13416231	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1528030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2119517	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2583015	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583017	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2696345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2696347	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696351	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3856407	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3856408	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4017312	0.82[AMR][1000 genomes]
rs4666794	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666795	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59476732	1.00[ASN][1000 genomes]
rs60472345	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6718072	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6733263	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs732483	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834477	chr2:182438121-182593527	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182552000-182553600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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