Variant report

Variant	rs2237981
Chromosome Location	chr11:17460899-17460900
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10400389	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs10766399	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10766400	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10766401	0.88[EUR][1000 genomes]
rs10766402	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10766403	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10832788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832789	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024290	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024295	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11821723	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11826760	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs12285976	0.80[CEU][hapmap]
rs12417170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12786125	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12794627	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12803384	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17775256	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2040653	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2057661	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2073585	0.96[CEU][hapmap];0.85[GIH][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes]
rs2073586	0.96[CEU][hapmap];0.80[TSI][hapmap];0.92[EUR][1000 genomes]
rs2073587	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2074319	0.84[AMR][1000 genomes]
rs2237966	0.82[MEX][hapmap]
rs2237973	0.86[EUR][1000 genomes]
rs2237975	0.91[MEX][hapmap]
rs2237976	0.96[CEU][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2237977	0.91[EUR][1000 genomes]
rs2237978	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237979	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237982	0.92[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2283254	0.82[MEX][hapmap]
rs2283259	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2283261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301703	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3781950	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3815066	0.80[AMR][1000 genomes]
rs3819517	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3819519	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3819520	0.81[CEU][hapmap]
rs3819522	0.81[CEU][hapmap]
rs3819523	0.80[CEU][hapmap]
rs4148603	0.90[EUR][1000 genomes]
rs4148604	0.80[CEU][hapmap]
rs4148606	0.86[EUR][1000 genomes]
rs4148609	0.80[AMR][1000 genomes]
rs4148610	0.81[CEU][hapmap];0.87[AMR][1000 genomes]
rs4459286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6486370	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7105391	0.84[CEU][hapmap];0.81[AMR][1000 genomes]
rs7105832	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs7117162	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs757109	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7932043	0.84[ASN][1000 genomes]
rs7934185	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7943461	0.81[CEU][hapmap];0.87[AMR][1000 genomes]
rs7947326	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7950189	0.80[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs886291	0.84[CEU][hapmap];0.90[MEX][hapmap];0.81[AMR][1000 genomes]
rs886292	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2237981	ABCC8	cis	parietal	SCAN
rs2237981	ABCC8	cis	Muscle Skeletal	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17443800-17462600	Weak transcription	Brain Substantia Nigra	brain
2	chr11:17454000-17464000	Weak transcription	Brain Anterior Caudate	brain
3	chr11:17454200-17465800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:17456000-17469200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:17456200-17461000	Weak transcription	Spleen	Spleen
6	chr11:17457000-17467200	Weak transcription	Fetal Brain Male	brain
7	chr11:17457200-17465400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:17457400-17464600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:17458800-17462000	Enhancers	Fetal Thymus	thymus
10	chr11:17460000-17461400	Enhancers	Dnd41	blood
11	chr11:17460000-17461600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:17460200-17461200	Enhancers	Gastric	stomach
13	chr11:17460200-17462400	Strong transcription	Fetal Brain Female	brain
14	chr11:17460400-17461200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:17460400-17461400	Enhancers	Fetal Intestine Large	intestine
16	chr11:17460400-17461600	Enhancers	Fetal Lung	lung
17	chr11:17460400-17462200	Enhancers	A549	lung
18	chr11:17460600-17461000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr11:17460600-17461000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr11:17460600-17461200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:17460600-17461400	Enhancers	Stomach Mucosa	stomach
22	chr11:17460600-17461600	Enhancers	Fetal Intestine Small	intestine
23	chr11:17460800-17461000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr11:17460800-17461200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr11:17460800-17461200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
26	chr11:17460800-17461200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:17460800-17461400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:17460800-17461400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:17460800-17461400	Enhancers	Primary hematopoietic stem cells	blood
30	chr11:17460800-17461400	Enhancers	Pancreas	Pancrea
31	chr11:17460800-17461400	Bivalent Enhancer	HepG2	liver
32	chr11:17460800-17461800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr11:17460800-17461800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:17460800-17462000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:17460800-17474000	Weak transcription	Brain Cingulate Gyrus	brain

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