Variant report

Variant	rs419483
Chromosome Location	chr5:112844587-112844588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112842312..112845098-chr5:112847464..112851049,4	K562	blood:
2	chr5:112823115..112825891-chr5:112843466..112845489,2	MCF-7	breast:
3	chr5:112842488..112845098-chr5:112846749..112850121,5	K562	blood:

Variant related genes	Relation type
ENSG00000047188	Chromatin interaction
ENSG00000171444	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10037429	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10072577	0.91[ASN][1000 genomes]
rs1035409	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739848	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11744710	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11744737	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11745445	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11746529	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11746565	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11747062	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11953034	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13153791	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13160021	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13161610	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13161969	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13166822	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13167659	0.91[ASN][1000 genomes]
rs13170908	0.82[ASN][1000 genomes]
rs13171273	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13171389	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13172774	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13180262	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13187776	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17327139	0.87[AFR][1000 genomes]
rs17332053	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17333442	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs182988	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2860483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910017	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2914151	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2914152	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34158516	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34554590	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34870059	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348919	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348934	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348935	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348939	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35077609	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35274088	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35364742	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3763141	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs414475	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs421515	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4410636	0.82[ASN][1000 genomes]
rs446272	0.82[EUR][1000 genomes]
rs458055	0.87[AFR][1000 genomes]
rs4705554	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4705829	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58479323	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6594727	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66838021	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67382821	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67881502	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs68131815	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71577453	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7703186	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7705255	0.81[EUR][1000 genomes]
rs7736165	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112841400-112847800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:112841400-112848000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112841600-112847000	Weak transcription	NHEK	skin
4	chr5:112844200-112844600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:112844200-112844800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:112844200-112845000	Enhancers	HMEC	breast
7	chr5:112844200-112845400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:112844400-112844600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:112844400-112845000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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