Variant report

Variant	rs10096421
Chromosome Location	chr8:10831868-10831869
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10088408	0.89[EUR][1000 genomes]
rs10089518	0.92[CEU][hapmap];0.89[TSI][hapmap]
rs10093514	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10096381	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs10096511	0.90[EUR][1000 genomes]
rs10111950	0.89[EUR][1000 genomes]
rs11250097	0.93[EUR][1000 genomes]
rs11250098	0.88[EUR][1000 genomes]
rs11250099	0.96[CEU][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs2409718	0.87[ASW][hapmap]
rs28494533	1.00[ASN][1000 genomes]
rs3021494	0.87[ASW][hapmap]
rs34738102	0.91[EUR][1000 genomes]
rs35910832	0.89[EUR][1000 genomes]
rs3885690	0.82[CHB][hapmap];0.81[CHD][hapmap];0.81[ASN][1000 genomes]
rs4078189	0.81[ASN][1000 genomes]
rs4314618	0.89[EUR][1000 genomes]
rs4451266	0.92[EUR][1000 genomes]
rs4451267	0.93[EUR][1000 genomes]
rs4841465	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs4841466	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4841467	0.99[ASN][1000 genomes]
rs6601541	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6601542	1.00[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.99[ASN][1000 genomes]
rs6601544	0.89[CEU][hapmap];0.85[GIH][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs6601560	0.83[CEU][hapmap]
rs6983869	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6996943	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs7010262	0.91[EUR][1000 genomes]
rs7010719	0.93[EUR][1000 genomes]
rs7011106	0.91[EUR][1000 genomes]
rs7011268	0.93[EUR][1000 genomes]
rs7014861	0.91[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	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:12)

SNP	Gene	Cis/trans	Tissue	Source
rs10096421	DEFB134	cis	cerebellum	SCAN
rs10096421	TDH	cis	cerebellum	SCAN
rs10096421	FLJ10661	cis	cerebellum	SCAN
rs10096421	MFHAS1	cis	cerebellum	SCAN
rs10096421	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs10096421	CTSB	cis	cerebellum	SCAN
rs10096421	DEFB136	cis	parietal	SCAN
rs10096421	BLK	cis	lymphoblastoid	seeQTL
rs10096421	C8orf13	Cis_1M	lymphoblastoid	RTeQTL
rs10096421	PRSS55	cis	cerebellum	SCAN
rs10096421	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs10096421	DEFB134	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10826000-10832600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:10830200-10836200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:10830200-10836400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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