Variant report

Variant	rs4301813
Chromosome Location	chr11:5372189-5372190
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5365752..5367292-chr11:5371072..5372719,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10837945	0.90[EUR][1000 genomes]
rs11037097	0.87[EUR][1000 genomes]
rs12360876	0.87[CEU][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2340327	0.83[JPT][hapmap]
rs2471983	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2471984	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2647545	0.87[CEU][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs2647547	0.80[JPT][hapmap]
rs2647548	0.80[JPT][hapmap]
rs2647550	0.85[JPT][hapmap]
rs2647551	0.80[JPT][hapmap]
rs2647552	0.80[JPT][hapmap]
rs2647555	0.80[JPT][hapmap]
rs2647556	0.80[JPT][hapmap]
rs2647611	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2723375	0.80[JPT][hapmap]
rs2736537	0.90[ASW][hapmap];0.87[CEU][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.92[YRI][hapmap];0.93[EUR][1000 genomes]
rs2736538	0.80[JPT][hapmap]
rs2736539	0.80[JPT][hapmap]
rs2736540	0.80[JPT][hapmap]
rs2736541	0.87[CEU][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.93[EUR][1000 genomes]
rs2736544	0.87[CEU][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs2736546	0.89[EUR][1000 genomes]
rs2736549	0.87[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2736551	1.00[CEU][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4494328	0.90[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7479727	0.83[JPT][hapmap]
rs951747	0.82[JPT][hapmap]
rs9734220	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524400	chr11:5328361-5416622	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
3	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer 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	89 gene(s)	inside rSNPs	diseases
4	nsv896931	chr11:5357881-5505149	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv18780	chr11:5372010-5384809	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4301813	DNHD1	cis	parietal	SCAN
rs4301813	HBE1	cis	parietal	SCAN
rs4301813	ART1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5365600-5382600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:5370200-5372800	Weak transcription	K562	blood
3	chr11:5370200-5376000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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