Variant report

Variant	rs4401612
Chromosome Location	chr5:42089584-42089585
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	chr5:42088817..42090333-chr5:42092349..42094008,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10037143	0.86[ASN][1000 genomes]
rs10053179	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10077609	0.95[EUR][1000 genomes]
rs10078494	0.89[ASN][1000 genomes]
rs1073273	0.89[ASN][1000 genomes]
rs1110874	0.86[ASN][1000 genomes]
rs1119855	0.91[ASN][1000 genomes]
rs12514243	0.89[ASN][1000 genomes]
rs12515833	0.95[ASN][1000 genomes]
rs12517161	0.89[ASN][1000 genomes]
rs1501517	0.80[AFR][1000 genomes]
rs1501528	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1875430	0.83[ASN][1000 genomes]
rs2134102	0.89[ASN][1000 genomes]
rs276233	0.86[EUR][1000 genomes]
rs276234	0.86[EUR][1000 genomes]
rs276235	0.86[EUR][1000 genomes]
rs276237	0.86[EUR][1000 genomes]
rs276238	0.86[EUR][1000 genomes]
rs276239	0.86[EUR][1000 genomes]
rs276240	0.86[EUR][1000 genomes]
rs276241	0.86[EUR][1000 genomes]
rs276242	0.86[EUR][1000 genomes]
rs276243	0.86[EUR][1000 genomes]
rs276246	0.87[EUR][1000 genomes]
rs276270	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs276277	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28797309	0.81[EUR][1000 genomes]
rs3913458	0.89[ASN][1000 genomes]
rs4626371	0.95[ASN][1000 genomes]
rs4957464	0.95[ASN][1000 genomes]
rs58911119	0.88[ASN][1000 genomes]
rs6451592	0.89[ASN][1000 genomes]
rs666080	0.87[EUR][1000 genomes]
rs7713544	0.89[ASN][1000 genomes]
rs905097	0.86[ASN][1000 genomes]
rs905098	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs905099	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs931230	0.95[ASN][1000 genomes]
rs931231	0.83[ASN][1000 genomes]
rs990898	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	esv1843569	chr5:42008999-42128184	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1032171	chr5:42015138-42220940	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv462125	chr5:42019110-42192620	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv597885	chr5:42019110-42192620	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr5:42089400-42090000	Enhancers	Placenta	Placenta

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