Variant report

Variant	rs3819517
Chromosome Location	chr11:17487278-17487279
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17447052..17448727-chr11:17486518..17488813,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10400389	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10766400	0.81[CEU][hapmap]
rs10766401	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10766402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10766403	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832788	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10832789	0.91[EUR][1000 genomes]
rs10832791	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11024290	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11024295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024296	0.84[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024297	0.90[ASN][1000 genomes]
rs11024299	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs11826760	0.84[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12285976	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12417170	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs12786125	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12803384	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2057661	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2073585	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2073586	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[EUR][1000 genomes]
rs2073587	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2074319	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237966	0.80[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs2237967	0.82[ASN][1000 genomes]
rs2237968	0.83[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs2237969	0.90[ASN][1000 genomes]
rs2237970	0.90[ASN][1000 genomes]
rs2237971	0.94[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs2237972	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237973	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237974	0.84[CEU][hapmap];0.85[CHB][hapmap]
rs2237975	0.80[CEU][hapmap];0.86[CHB][hapmap];0.82[EUR][1000 genomes]
rs2237976	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2237977	0.93[EUR][1000 genomes]
rs2237978	0.83[CEU][hapmap]
rs2237980	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2237981	0.96[CEU][hapmap]
rs2237982	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2237983	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2283254	0.80[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs2283256	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2283258	0.81[CHB][hapmap]
rs2283259	0.96[EUR][1000 genomes]
rs2283261	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2301703	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3781950	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3815066	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3819518	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3819519	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819520	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3819521	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3819522	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3819523	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3819524	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4148601	0.81[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs4148602	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4148603	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4148604	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4148605	0.87[ASN][1000 genomes]
rs4148606	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4148607	0.84[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs4148608	0.90[ASN][1000 genomes]
rs4148609	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148610	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4459286	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs6486370	0.95[CEU][hapmap];0.89[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7105391	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7105832	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7106250	0.84[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs7119716	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7120682	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71457878	0.85[ASN][1000 genomes]
rs757109	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7934185	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7943461	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7947326	0.81[CEU][hapmap]
rs886289	0.86[ASN][1000 genomes]
rs886291	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs886292	0.81[CEU][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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv897019	chr11:17475443-17499547	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv897020	chr11:17476516-17491386	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv897021	chr11:17478157-17491386	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv897022	chr11:17478157-17496516	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3819517	ABCC8	cis	Muscle Skeletal	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17461200-17497400	Weak transcription	Gastric	stomach
2	chr11:17465800-17496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:17472400-17489600	Weak transcription	Brain Substantia Nigra	brain
4	chr11:17480200-17494000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:17480200-17494200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:17480200-17494800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:17481800-17495200	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:17483400-17489200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:17483800-17493400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:17485200-17488800	Weak transcription	Brain Germinal Matrix	brain
11	chr11:17485400-17488600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:17485400-17491200	Weak transcription	Brain Angular Gyrus	brain
13	chr11:17486000-17489600	Weak transcription	Brain Anterior Caudate	brain
14	chr11:17486000-17492600	Weak transcription	Spleen	Spleen
15	chr11:17487200-17489800	Weak transcription	Fetal Brain Female	brain
16	chr11:17487200-17494200	Weak transcription	Brain Inferior Temporal Lobe	brain

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