Variant report

Variant	rs11783631
Chromosome Location	chr8:50896437-50896438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10112215	0.88[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1023979	0.88[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap]
rs10504093	1.00[CEU][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.89[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs10957679	0.87[EUR][1000 genomes]
rs10957682	0.87[EUR][1000 genomes]
rs10957710	0.82[JPT][hapmap]
rs10957739	0.83[CHD][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs10957741	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs1157932	1.00[CEU][hapmap];0.87[JPT][hapmap];0.96[EUR][1000 genomes]
rs11776388	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11777957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11778027	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11781675	0.86[CHB][hapmap]
rs11783503	0.91[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11784278	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784738	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11786880	0.96[EUR][1000 genomes]
rs11787050	0.87[EUR][1000 genomes]
rs12541363	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12545695	0.88[EUR][1000 genomes]
rs12547245	0.96[EUR][1000 genomes]
rs13264385	0.87[JPT][hapmap]
rs13266009	0.83[CHD][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs13267366	0.86[CHB][hapmap]
rs13273334	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs1344326	1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1352114	0.93[JPT][hapmap]
rs1385980	0.88[EUR][1000 genomes]
rs1484805	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs1484806	0.87[JPT][hapmap]
rs1486256	0.87[JPT][hapmap]
rs1486258	0.84[CHD][hapmap];0.87[JPT][hapmap]
rs1486263	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs1552316	0.87[JPT][hapmap]
rs1552377	0.96[EUR][1000 genomes]
rs1552379	0.88[EUR][1000 genomes]
rs1586364	0.87[EUR][1000 genomes]
rs1601298	0.87[JPT][hapmap]
rs16913687	0.87[EUR][1000 genomes]
rs16914039	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[EUR][1000 genomes]
rs170331	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[EUR][1000 genomes]
rs1973259	0.87[JPT][hapmap]
rs2015043	0.88[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2054743	0.87[JPT][hapmap]
rs2086888	0.82[CHD][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs2129161	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2129169	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2170953	0.88[CHD][hapmap];0.87[JPT][hapmap]
rs2220157	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2385554	0.81[CHD][hapmap];0.87[JPT][hapmap]
rs2385696	1.00[CEU][hapmap];0.87[JPT][hapmap];0.96[EUR][1000 genomes]
rs2385697	0.87[JPT][hapmap]
rs2385699	0.87[JPT][hapmap]
rs2385700	0.81[ASN][1000 genomes]
rs2449960	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs2449963	0.83[CHD][hapmap];0.93[JPT][hapmap]
rs2450286	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs2450287	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs2450290	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.89[MEX][hapmap];0.83[EUR][1000 genomes]
rs318850	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs318851	0.88[CHD][hapmap];0.86[GIH][hapmap];0.87[JPT][hapmap];0.89[MEX][hapmap]
rs318853	0.88[CHD][hapmap];0.86[GIH][hapmap];0.87[JPT][hapmap];0.89[MEX][hapmap]
rs318854	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs318858	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[EUR][1000 genomes]
rs318859	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[EUR][1000 genomes]
rs318861	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.89[MEX][hapmap];0.91[EUR][1000 genomes]
rs318867	0.93[JPT][hapmap];0.83[YRI][hapmap]
rs318874	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[EUR][1000 genomes]
rs318913	0.83[CHD][hapmap];0.93[JPT][hapmap];0.83[LWK][hapmap];0.83[ASN][1000 genomes]
rs3812426	0.87[JPT][hapmap]
rs4144735	0.86[JPT][hapmap]
rs4242456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4460388	0.87[JPT][hapmap]
rs4467946	1.00[MEX][hapmap]
rs4634657	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873118	0.87[EUR][1000 genomes]
rs4873119	0.87[EUR][1000 genomes]
rs4873120	1.00[CEU][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes]
rs4873121	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4873392	0.87[EUR][1000 genomes]
rs4873400	0.88[MEX][hapmap]
rs4873401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873402	0.89[MEX][hapmap]
rs55780592	0.96[EUR][1000 genomes]
rs55879210	0.87[EUR][1000 genomes]
rs56040457	0.96[EUR][1000 genomes]
rs59240550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59679832	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6472721	0.86[CHB][hapmap]
rs6472838	0.96[EUR][1000 genomes]
rs6472839	0.88[EUR][1000 genomes]
rs6988440	0.87[EUR][1000 genomes]
rs7004973	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[EUR][1000 genomes]
rs7008449	0.88[EUR][1000 genomes]
rs7010915	0.88[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7014520	0.88[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs73676077	0.87[EUR][1000 genomes]
rs7388392	0.96[EUR][1000 genomes]
rs7828900	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7833377	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs923058	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs923060	0.87[JPT][hapmap]
rs931293	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs931294	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9643689	0.83[CHD][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs9643692	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs967107	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs971926	0.88[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs974740	0.83[EUR][1000 genomes]
rs974742	0.87[EUR][1000 genomes]
rs993553	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1022115	chr8:50864995-50981944	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv611311	chr8:50865230-50980320	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv34788	chr8:50873247-50965438	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3479183	chr8:50873277-50965062	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1033098	chr8:50873293-50965692	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2757272	chr8:50873293-50968942	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3479184	chr8:50873317-50965027	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3479185	chr8:50873317-50965027	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3692982	chr8:50875494-50959622	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1023258	chr8:50877934-50964286	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv818624	chr8:50882830-50945075	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11783631	ETV3L	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50894000-50898600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:50895400-50896600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:50896200-50896600	Enhancers	Brain Hippocampus Middle	brain

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