Variant report

Variant	rs886291
Chromosome Location	chr11:17481948-17481949
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17462780..17465155-chr11:17480733..17482429,2	K562	blood:
2	chr11:17475034..17476631-chr11:17480945..17483490,2	K562	blood:
3	chr11:17475103..17476631-chr11:17480945..17482872,2	K562	blood:

Variant related genes	Relation type
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10400389	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10766399	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10766400	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10766401	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10766402	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10766403	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832788	0.81[AMR][1000 genomes]
rs10832789	0.80[AMR][1000 genomes]
rs10832791	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024290	0.84[CEU][hapmap];0.95[MEX][hapmap]
rs11024295	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11024296	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11024297	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11024299	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11821723	1.00[CEU][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11826760	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12285976	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12417170	0.84[CEU][hapmap];0.90[MEX][hapmap]
rs12786125	0.88[AMR][1000 genomes]
rs12794627	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12803384	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17775256	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2040653	1.00[CEU][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2057661	0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2073585	0.85[CHB][hapmap];0.80[CHD][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2073586	0.85[CHB][hapmap];0.80[CHD][hapmap];0.80[EUR][1000 genomes]
rs2074319	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237966	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237968	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237969	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237970	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237971	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237972	0.89[ASN][1000 genomes]
rs2237973	0.90[ASN][1000 genomes]
rs2237974	0.95[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2237975	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2237976	0.80[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];0.91[MEX][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2237977	0.81[EUR][1000 genomes]
rs2237978	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2237979	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2237980	0.81[AMR][1000 genomes]
rs2237981	0.84[CEU][hapmap];0.90[MEX][hapmap]
rs2237982	0.87[CEU][hapmap];0.90[MEX][hapmap];0.81[AMR][1000 genomes]
rs2237983	0.81[AMR][1000 genomes]
rs2283254	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2283256	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2283258	0.87[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap]
rs2283259	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2283261	0.81[AMR][1000 genomes]
rs2301703	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3781950	0.81[AMR][1000 genomes]
rs3815066	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819517	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3819518	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3819519	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3819520	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3819521	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3819522	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3819523	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3819524	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4148601	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4148602	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4148603	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4148604	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4148605	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4148606	0.87[ASN][1000 genomes]
rs4148607	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4148608	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148609	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148610	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4459286	0.84[CEU][hapmap];0.90[MEX][hapmap]
rs6486370	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7105391	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];1.00[ASN][1000 genomes]
rs7105832	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7106250	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7117162	1.00[CEU][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7119716	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7120682	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71457878	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs757109	0.84[CEU][hapmap];0.90[MEX][hapmap];0.83[AMR][1000 genomes]
rs7934185	0.81[EUR][1000 genomes]
rs7943461	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947326	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs886289	0.91[ASN][1000 genomes]
rs886292	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs886291	ABCC8	cis	Muscle Skeletal	GTEx
rs886291	PDE3B	cis	cerebellum	SCAN

Chromatin state (count:21 , 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	chr11:17470200-17482000	Weak transcription	Brain Germinal Matrix	brain
4	chr11:17472400-17489600	Weak transcription	Brain Substantia Nigra	brain
5	chr11:17474000-17482200	Weak transcription	Brain Angular Gyrus	brain
6	chr11:17474000-17485000	Weak transcription	Lung	lung
7	chr11:17479200-17482200	Enhancers	Adipose Nuclei	Adipose
8	chr11:17479800-17485800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:17480200-17494000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:17480200-17494200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:17480200-17494800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:17481200-17483200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr11:17481400-17482600	Enhancers	Fetal Muscle Leg	muscle
14	chr11:17481600-17483600	Strong transcription	Fetal Brain Female	brain
15	chr11:17481800-17483400	Strong transcription	Brain Anterior Caudate	brain
16	chr11:17481800-17483400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:17481800-17483400	Strong transcription	Dnd41	blood
18	chr11:17481800-17483800	Strong transcription	Brain Cingulate Gyrus	brain
19	chr11:17481800-17483800	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr11:17481800-17485400	Strong transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:17481800-17495200	Weak transcription	Brain Hippocampus Middle	brain

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