Variant report

Variant	rs4721380
Chromosome Location	chr7:14884246-14884247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10085416	0.85[CEU][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs10085569	0.81[EUR][1000 genomes]
rs10241696	0.81[EUR][1000 genomes]
rs10241897	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10487781	0.85[CEU][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs10950537	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12539188	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12540439	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13228522	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17368281	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1860582	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1860583	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2041407	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]
rs2041408	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2109499	0.81[EUR][1000 genomes]
rs2109500	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs2191481	0.82[EUR][1000 genomes]
rs2215430	0.86[ASW][hapmap];0.85[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2358071	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4719426	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55635963	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56057308	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56159434	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62448747	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62448749	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6461137	0.82[EUR][1000 genomes]
rs7806933	0.82[EUR][1000 genomes]
rs7811739	1.00[YRI][hapmap]
rs975689	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4721380	VWDE	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14875400-14886200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:14877000-14886000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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