Variant report

Variant	rs6996943
Chromosome Location	chr8:10836436-10836437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10088408	0.85[EUR][1000 genomes]
rs10089518	0.96[CEU][hapmap]
rs10096381	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs10096421	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs10096511	0.84[EUR][1000 genomes]
rs10107145	0.80[CEU][hapmap]
rs10111950	0.83[EUR][1000 genomes]
rs11250093	0.83[CEU][hapmap]
rs11250097	0.87[EUR][1000 genomes]
rs11250098	0.83[EUR][1000 genomes]
rs11250099	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs34738102	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35910832	0.84[EUR][1000 genomes]
rs4240673	0.83[CEU][hapmap]
rs4285446	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4314618	0.83[EUR][1000 genomes]
rs4451266	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4451267	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841465	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs4841466	0.85[EUR][1000 genomes]
rs6601544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984496	0.83[CEU][hapmap]
rs7010262	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011106	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011268	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7014861	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73662659	0.95[ASN][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	nsv521721	chr8:10802102-10836472	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6996943	AF131215.2	cis	Stomach	GTEx
rs6996943	C8orf13	Cis_1M	lymphoblastoid	RTeQTL
rs6996943	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs6996943	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10836200-10836600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:10836200-10837000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:10836400-10836800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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