Variant report

Variant	rs11024299
Chromosome Location	chr11:17493824-17493825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17492351..17494753-chr11:17565764..17567313,2	K562	blood:
2	chr11:17408071..17409415-chr11:17493655..17495242,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187486	Chromatin interaction
ENSG00000006611	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10400389	0.84[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10766399	0.86[EUR][1000 genomes]
rs10766400	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs10766401	0.86[ASN][1000 genomes]
rs10766402	0.89[ASN][1000 genomes]
rs10766403	0.91[ASN][1000 genomes]
rs10832791	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11024295	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs11024296	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024297	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11821723	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs11826760	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12285976	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12794627	0.87[EUR][1000 genomes]
rs12803384	0.93[ASN][1000 genomes]
rs17775256	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs2040653	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs2057661	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs2073585	0.84[CHB][hapmap]
rs2073586	0.84[CHB][hapmap]
rs2074319	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237967	0.82[ASN][1000 genomes]
rs2237968	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237969	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237970	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237971	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237972	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2237973	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237974	0.95[CEU][hapmap];0.90[CHB][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2237975	0.91[CEU][hapmap];0.90[CHB][hapmap];0.90[EUR][1000 genomes]
rs2237976	0.89[CHB][hapmap]
rs2237978	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs2237979	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2283254	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2283256	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2283258	0.84[CHB][hapmap]
rs2301703	0.81[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs3815066	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3819517	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs3819518	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3819519	0.91[ASN][1000 genomes]
rs3819520	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3819521	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3819522	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3819523	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3819524	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4148601	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4148602	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4148603	0.94[ASN][1000 genomes]
rs4148604	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4148605	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148606	0.89[ASN][1000 genomes]
rs4148607	0.95[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148608	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4148609	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4148610	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6486370	0.91[CEU][hapmap];0.88[CHB][hapmap]
rs7105391	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7105832	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7106250	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7117162	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs7119716	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7120682	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71457878	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7943461	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7947326	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs886289	0.86[ASN][1000 genomes]
rs886291	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs886292	0.92[CEU][hapmap];0.86[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	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	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
rs11024299	ABCC8	cis	Muscle Skeletal	GTEx

Chromatin state (count:13 , 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	chr11:17480200-17494000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:17480200-17494200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:17480200-17494800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:17481800-17495200	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:17487200-17494200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:17490200-17496200	Weak transcription	Brain Germinal Matrix	brain
9	chr11:17492000-17495200	Weak transcription	Brain Angular Gyrus	brain
10	chr11:17492000-17497200	Weak transcription	Fetal Brain Female	brain
11	chr11:17492800-17494400	Weak transcription	Spleen	Spleen
12	chr11:17493200-17496400	Weak transcription	Brain Anterior Caudate	brain
13	chr11:17493600-17494200	Enhancers	Pancreatic Islets	Pancreatic Islet

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