Variant report

Variant	rs10766389
Chromosome Location	chr11:17380562-17380563
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17379653..17382608-chr11:17386484..17389844,3	K562	blood:
2	chr11:17374927..17377561-chr11:17380204..17381748,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1002227	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.80[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs10219196	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10430892	0.95[CHB][hapmap]
rs10466382	1.00[ASW][hapmap];0.90[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.89[MKK][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10766383	1.00[ASW][hapmap];0.90[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs10766384	1.00[ASW][hapmap];0.90[CEU][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs10766385	0.82[ASW][hapmap];0.90[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10766387	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10766390	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10766391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10766392	1.00[YRI][hapmap]
rs10766393	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs10832757	1.00[ASW][hapmap];0.90[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10832758	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10832759	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10832760	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10832762	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10832763	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs10832764	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10832765	0.82[ASW][hapmap];0.89[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10832768	0.82[ASW][hapmap];0.90[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10832769	0.89[CEU][hapmap];0.91[CHB][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10832770	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10832771	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10832772	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs10832773	0.91[ASN][1000 genomes]
rs10832774	0.95[ASN][1000 genomes]
rs10832775	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs10832777	0.83[ASN][1000 genomes]
rs10832779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10832781	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10832782	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs11024246	0.86[CHB][hapmap]
rs11024250	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11024251	0.90[CEU][hapmap];0.91[CHB][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11024253	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11024254	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11024256	0.82[ASN][1000 genomes]
rs11024260	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11024262	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs11024263	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs11024272	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs11024273	0.85[CEU][hapmap];0.83[LWK][hapmap];0.92[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap]
rs11525338	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12225041	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2018218	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2067043	0.81[CEU][hapmap];0.83[GIH][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs2074312	0.81[CEU][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap]
rs2079042	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2354867	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs34327804	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3741203	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs4148638	0.89[CEU][hapmap];0.82[YRI][hapmap]
rs4582955	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4756887	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs5218	1.00[ASW][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap]
rs7950330	0.97[ASN][1000 genomes]
rs9633836	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs9645621	0.90[CEU][hapmap];0.82[TSI][hapmap];0.83[EUR][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:13)

SNP	Gene	Cis/trans	Tissue	Source
rs10766389	DKFZp686O24166	cis	cerebellum	SCAN
rs10766389	NUCB2	cis	cerebellum	SCAN
rs10766389	KCNJ11	cis	cerebellum	SCAN
rs10766389	NCR3LG1	cis	Esophagus Mucosa	GTEx
rs10766389	TSG101	cis	cerebellum	SCAN
rs10766389	GTF2H1	cis	cerebellum	SCAN
rs10766389	ABCC8	cis	parietal	SCAN
rs10766389	GTF2H1	cis	parietal	SCAN
rs10766389	ABCC8	cis	cerebellum	SCAN
rs10766389	LOC494141	cis	lymphoblastoid	seeQTL
rs10766389	RP1-239B22.5	cis	Esophagus Mucosa	GTEx
rs10766389	KCNJ11	cis	Esophagus Mucosa	GTEx
rs10766389	PTH	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17375400-17388800	Weak transcription	Spleen	Spleen
2	chr11:17375400-17389600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:17375400-17390200	Weak transcription	Small Intestine	intestine
4	chr11:17375600-17388400	Weak transcription	Gastric	stomach
5	chr11:17375600-17388600	Weak transcription	Left Ventricle	heart
6	chr11:17375600-17389000	Weak transcription	Pancreas	Pancrea
7	chr11:17375800-17387600	Weak transcription	Aorta	Aorta
8	chr11:17376000-17382400	Weak transcription	Fetal Stomach	stomach
9	chr11:17376000-17385400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:17376000-17387200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:17376000-17387400	Weak transcription	Primary T cells from cord blood	blood
12	chr11:17376000-17387600	Weak transcription	Placenta	Placenta
13	chr11:17376000-17387600	Weak transcription	Ovary	ovary
14	chr11:17376000-17387800	Weak transcription	HSMMtube	muscle
15	chr11:17376000-17388000	Weak transcription	Colonic Mucosa	Colon
16	chr11:17376000-17388200	Weak transcription	Thymus	Thymus
17	chr11:17376000-17388400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:17376000-17388400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:17376000-17389000	Weak transcription	NHLF	lung
20	chr11:17376000-17389800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr11:17376000-17389800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:17376000-17390000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:17376000-17391000	Weak transcription	Right Ventricle	heart
24	chr11:17376200-17381200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:17376200-17385800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:17376200-17390000	Weak transcription	Fetal Brain Male	brain
27	chr11:17376400-17390000	Weak transcription	HUVEC	blood vessel
28	chr11:17376400-17390600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:17376600-17380600	Weak transcription	NHEK	skin
30	chr11:17376600-17387600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:17376600-17387800	Weak transcription	NHDF-Ad	bronchial
32	chr11:17376600-17388000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:17376600-17388000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:17376600-17388000	Weak transcription	HMEC	breast
35	chr11:17376600-17388400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:17376600-17389000	Weak transcription	Brain Angular Gyrus	brain
37	chr11:17376600-17391400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:17376800-17387400	Weak transcription	Hela-S3	cervix
39	chr11:17376800-17388800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:17376800-17388800	Weak transcription	Brain Anterior Caudate	brain
41	chr11:17377400-17387200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:17377800-17388400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:17378000-17380600	Strong transcription	Dnd41	blood
44	chr11:17378000-17381000	Strong transcription	Fetal Intestine Large	intestine
45	chr11:17378200-17383400	Strong transcription	K562	blood
46	chr11:17378200-17383800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:17378400-17382800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:17378400-17388200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:17378800-17387200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:17379000-17382200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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