Variant report

Variant	rs4141318
Chromosome Location	chr7:11520106-11520107
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10486133	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10486134	0.89[CEU][hapmap];0.83[CHB][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10486136	0.89[CEU][hapmap];0.83[CHB][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12216656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12531326	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12531791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12536466	0.89[CEU][hapmap];0.83[CHB][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12536515	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12536556	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537175	0.89[CEU][hapmap];0.83[CHB][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17149861	0.83[CEU][hapmap];0.83[CHB][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17556469	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17556497	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17557036	0.89[CEU][hapmap];0.83[CHB][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17557433	0.83[CEU][hapmap];0.83[CHB][hapmap];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17632003	0.89[CEU][hapmap];0.83[CHB][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17632075	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17632105	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17632187	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17632560	0.89[CEU][hapmap];0.83[CHB][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3735502	1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6967171	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6967452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73068764	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73068765	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73068778	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73068781	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73068790	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73068794	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73070814	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv830902	chr7:11336527-11523904	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv830903	chr7:11384957-11586376	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv887606	chr7:11473561-11771288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv1028614	chr7:11511684-11596934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv981799	chr7:11514828-11520367	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
12	nsv887607	chr7:11518918-11531679	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4141318	VWDE	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11480400-11523200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:11514000-11520600	Weak transcription	Fetal Kidney	kidney
3	chr7:11514200-11522200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:11514200-11531600	Weak transcription	Fetal Lung	lung
5	chr7:11514800-11523000	Weak transcription	Placenta	Placenta
6	chr7:11515200-11521400	Weak transcription	Pancreas	Pancrea
7	chr7:11519000-11520400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:11519800-11520200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:11519800-11520200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:11519800-11520200	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links