Variant report

Variant	rs4240671
Chromosome Location	chr8:10767748-10767749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10763108..10765386-chr8:10767058..10768941,2	K562	blood:
2	chr8:10760620..10764608-chr8:10766304..10768558,3	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10087767	1.00[CHB][hapmap]
rs10089518	1.00[CHB][hapmap]
rs10107145	0.81[AMR][1000 genomes]
rs10108618	0.81[MEX][hapmap]
rs10503409	1.00[CHD][hapmap]
rs10903337	1.00[CHB][hapmap]
rs11250084	1.00[JPT][hapmap]
rs11250086	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11250092	1.00[CHB][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap]
rs11250093	0.81[CEU][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap]
rs11250094	0.83[CEU][hapmap]
rs11776011	0.87[ASN][1000 genomes]
rs11776368	1.00[CHD][hapmap]
rs11778121	1.00[CHB][hapmap]
rs11783247	0.95[MEX][hapmap];0.91[TSI][hapmap]
rs11784061	0.87[ASN][1000 genomes]
rs11784331	0.87[ASN][1000 genomes]
rs11785392	1.00[CHB][hapmap]
rs11998382	1.00[CHD][hapmap]
rs12156345	1.00[CHD][hapmap]
rs12375394	1.00[CHD][hapmap]
rs12546366	0.81[CEU][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap]
rs12548184	0.81[EUR][1000 genomes]
rs12750	1.00[CHD][hapmap]
rs13248264	1.00[CHB][hapmap]
rs13248287	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13248300	1.00[CHB][hapmap]
rs13249916	1.00[CHB][hapmap]
rs13251528	1.00[CHB][hapmap]
rs13270870	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13273857	1.00[CHB][hapmap]
rs13279307	0.87[ASN][1000 genomes]
rs13279922	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1430866	1.00[JPT][hapmap]
rs1529598	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17152841	1.00[CHB][hapmap]
rs17720365	1.00[CHD][hapmap]
rs17776427	1.00[CHD][hapmap]
rs17776622	1.00[CHD][hapmap]
rs17776946	1.00[CHD][hapmap]
rs17778581	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17779791	1.00[CHB][hapmap]
rs2409654	1.00[CHD][hapmap]
rs2409655	1.00[CHD][hapmap]
rs2409691	1.00[CHB][hapmap];0.81[MEX][hapmap]
rs2409692	1.00[CHB][hapmap]
rs2409693	1.00[CHB][hapmap]
rs2409695	1.00[CHB][hapmap]
rs34741518	0.82[AMR][1000 genomes]
rs4240672	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240673	0.81[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs4310166	1.00[CHD][hapmap];0.81[GIH][hapmap]
rs4326350	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4554431	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4840525	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841457	0.80[AMR][1000 genomes]
rs4841458	1.00[CHD][hapmap]
rs4841460	1.00[CHB][hapmap]
rs4841486	1.00[CHB][hapmap]
rs57145255	0.87[ASN][1000 genomes]
rs6601561	1.00[CHB][hapmap]
rs6601563	1.00[CHB][hapmap]
rs6984496	0.81[CEU][hapmap];0.89[TSI][hapmap]
rs6985109	1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes]
rs6997839	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997997	0.96[CEU][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009920	1.00[CHD][hapmap]
rs7015168	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7016385	0.95[MEX][hapmap];0.87[TSI][hapmap]
rs7813037	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7821826	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823296	0.81[CEU][hapmap];0.88[TSI][hapmap]
rs7832722	1.00[CHB][hapmap]
rs7834121	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7834248	0.87[EUR][1000 genomes]
rs7837038	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7838335	1.00[CHD][hapmap]
rs7843470	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs7843666	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9650658	1.00[CHD][hapmap]
rs9650659	1.00[CHD][hapmap]
rs9657519	0.81[MEX][hapmap]
rs9657544	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1025190	chr8:10756331-10802566	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs4240671	DEFB136	cis	parietal	SCAN
rs4240671	TDH	cis	cerebellum	SCAN
rs4240671	FLJ10661	cis	cerebellum	SCAN
rs4240671	CLDN23	cis	multi-tissue	Pritchard
rs4240671	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs4240671	FLJ10661	cis	parietal	SCAN
rs4240671	MFHAS1	cis	cerebellum	SCAN
rs4240671	CTSB	cis	cerebellum	SCAN
rs4240671	BLK	cis	lymphoblastoid	seeQTL
rs4240671	DEFB134	cis	cerebellum	SCAN
rs4240671	PRSS55	cis	cerebellum	SCAN
rs4240671	DEFB134	cis	parietal	SCAN
rs4240671	C8orf13	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10762400-10778800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:10765800-10770800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:10765800-10778400	Weak transcription	Pancreas	Pancrea
4	chr8:10767000-10768800	Enhancers	Fetal Brain Male	brain
5	chr8:10767200-10767800	Flanking Active TSS	GM12878-XiMat	blood
6	chr8:10767200-10768400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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