Variant report

Variant	rs10832789
Chromosome Location	chr11:17460302-17460303
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	chr11:17459219..17462653-chr11:17463041..17467220,4	K562	blood:

Variant related genes	Relation type
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10400389	0.87[EUR][1000 genomes]
rs10766399	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10766400	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10766401	0.88[EUR][1000 genomes]
rs10766402	0.91[EUR][1000 genomes]
rs10766403	0.90[EUR][1000 genomes]
rs10832788	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024290	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024295	0.91[EUR][1000 genomes]
rs11821723	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12417170	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12786125	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12794627	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12803384	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17775256	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2040653	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2057661	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2073585	0.95[EUR][1000 genomes]
rs2073586	0.92[EUR][1000 genomes]
rs2073587	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074319	0.83[AMR][1000 genomes]
rs2237973	0.86[EUR][1000 genomes]
rs2237976	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2237977	0.91[EUR][1000 genomes]
rs2237978	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237979	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237980	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237982	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237983	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283259	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2283261	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301703	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3781950	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3819517	0.91[EUR][1000 genomes]
rs3819519	0.91[EUR][1000 genomes]
rs4148603	0.90[EUR][1000 genomes]
rs4148606	0.86[EUR][1000 genomes]
rs4148610	0.85[AMR][1000 genomes]
rs4459286	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6486370	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7105391	0.80[AMR][1000 genomes]
rs7117162	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs757109	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932043	0.85[ASN][1000 genomes]
rs7934185	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7943461	0.85[AMR][1000 genomes]
rs7947326	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7950189	0.85[ASN][1000 genomes]
rs886291	0.80[AMR][1000 genomes]
rs886292	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10832789	ABCC8	cis	Muscle Skeletal	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17435200-17460600	Weak transcription	Right Atrium	heart
2	chr11:17443800-17462600	Weak transcription	Brain Substantia Nigra	brain
3	chr11:17446400-17460600	Weak transcription	Fetal Intestine Small	intestine
4	chr11:17454000-17464000	Weak transcription	Brain Anterior Caudate	brain
5	chr11:17454200-17465800	Weak transcription	Brain Angular Gyrus	brain
6	chr11:17456000-17469200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:17456200-17461000	Weak transcription	Spleen	Spleen
8	chr11:17456600-17460400	Weak transcription	Fetal Lung	lung
9	chr11:17457000-17467200	Weak transcription	Fetal Brain Male	brain
10	chr11:17457200-17465400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:17457400-17464600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:17457800-17460400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:17458800-17462000	Enhancers	Fetal Thymus	thymus
14	chr11:17459600-17460600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:17460000-17460800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:17460000-17461400	Enhancers	Dnd41	blood
17	chr11:17460000-17461600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:17460200-17461200	Enhancers	Gastric	stomach
19	chr11:17460200-17462400	Strong transcription	Fetal Brain Female	brain

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