Variant report

Variant	rs9994654
Chromosome Location	chr4:103919065-103919066
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103917029..103919082-chr4:103921084..103923888,2	K562	blood:
2	chr4:103755546..103757137-chr4:103918365..103920126,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10516497	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11734396	0.80[CEU][hapmap]
rs12505012	0.80[CEU][hapmap]
rs12506575	0.80[CEU][hapmap]
rs12508128	0.93[CEU][hapmap]
rs17033423	0.87[CEU][hapmap]
rs17217250	0.80[CEU][hapmap]
rs17283278	0.80[CEU][hapmap]
rs223391	1.00[CEU][hapmap];0.85[GIH][hapmap];0.85[TSI][hapmap]
rs223408	0.82[CEU][hapmap];0.89[LWK][hapmap];0.96[MKK][hapmap];0.94[YRI][hapmap]
rs2243682	0.80[CEU][hapmap]
rs2290943	0.80[CEU][hapmap]
rs2615538	0.85[CEU][hapmap]
rs2615542	0.80[CEU][hapmap]
rs2623069	0.80[CEU][hapmap]
rs2623076	0.80[CEU][hapmap]
rs2711889	0.80[CEU][hapmap]
rs2711896	0.80[CEU][hapmap]
rs2720449	0.80[CEU][hapmap]
rs2720451	0.80[CEU][hapmap]
rs2720457	0.80[CEU][hapmap]
rs2720467	0.80[CEU][hapmap]
rs4698879	0.80[CEU][hapmap]
rs4699038	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6830082	0.80[CEU][hapmap]
rs6847357	0.80[CEU][hapmap]
rs7672974	0.80[CEU][hapmap]

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	esv2757946	chr4:103780705-104057321	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759270	chr4:103780705-104057321	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
3	nsv461598	chr4:103807720-103953389	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv594978	chr4:103807720-103953389	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv879684	chr4:103887561-103939894	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3429917	chr4:103915319-104207455	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9994654	KRT8P46	cis	Esophagus Mucosa	GTEx
rs9994654	CENPE	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103908800-103926600	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links