Variant report

Variant	rs2041407
Chromosome Location	chr7:14861101-14861102
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	chr7:14859090..14861878-chr7:14862761..14865091,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10085416	0.85[CEU][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10085569	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10241696	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10241897	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276530	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs10487781	0.92[CEU][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10950537	0.88[EUR][1000 genomes]
rs12539188	0.83[EUR][1000 genomes]
rs12540439	0.83[EUR][1000 genomes]
rs13228522	0.84[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17368281	1.00[CEU][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1860582	0.87[EUR][1000 genomes]
rs1860583	0.85[EUR][1000 genomes]
rs2041408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2109499	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2109500	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs2191481	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2191482	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2215430	0.92[CEU][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs2358071	0.81[EUR][1000 genomes]
rs4719426	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4721380	0.92[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55635963	0.82[EUR][1000 genomes]
rs56057308	0.87[EUR][1000 genomes]
rs56159434	0.82[EUR][1000 genomes]
rs62448747	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62448749	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461137	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7806933	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs975689	0.85[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	nsv1031041	chr7:14624127-14999201	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv538741	chr7:14624127-14999201	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1020722	chr7:14792114-14871907	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2041407	VWDE	cis	parietal	SCAN
rs2041407	VWDE	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14847400-14861400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:14855800-14873200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:14859200-14865200	Weak transcription	Stomach Mucosa	stomach
4	chr7:14861000-14861200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:14861000-14862200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:14861000-14862400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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