Variant report

Variant	rs3765632
Chromosome Location	chr11:108353018-108353019
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108351170..108356197-chr11:108366781..108370741,5	K562	blood:
2	chr11:108330998..108332753-chr11:108351638..108353163,2	K562	blood:

Variant related genes	Relation type
ENSG00000166323	Chromatin interaction
ENSG00000178202	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10431060	0.86[EUR][1000 genomes]
rs10431061	0.91[CHD][hapmap]
rs10749917	0.84[ASN][1000 genomes]
rs10749918	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10789659	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10789665	0.87[ASN][1000 genomes]
rs10890834	0.96[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap]
rs10890849	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11212610	0.87[EUR][1000 genomes]
rs11212617	1.00[CEU][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap]
rs11212619	0.88[EUR][1000 genomes]
rs11212635	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11212640	0.95[EUR][1000 genomes]
rs11212659	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11212661	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11212666	0.91[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs11212672	0.87[JPT][hapmap]
rs11212676	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs113995	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12223381	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12419828	0.85[ASN][1000 genomes]
rs12792979	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12796446	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12801988	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1583598	1.00[CEU][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs170547	0.83[EUR][1000 genomes]
rs172894	1.00[CEU][hapmap];0.91[GIH][hapmap];0.97[TSI][hapmap]
rs172895	0.85[EUR][1000 genomes]
rs172896	1.00[CEU][hapmap]
rs179109	0.84[EUR][1000 genomes]
rs186594	0.85[EUR][1000 genomes]
rs186595	1.00[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs2118309	0.92[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs227040	1.00[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs227041	1.00[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs227053	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs227054	0.88[EUR][1000 genomes]
rs227055	1.00[CEU][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs227058	1.00[CEU][hapmap]
rs227061	1.00[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs227062	1.00[CEU][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes]
rs227063	0.80[EUR][1000 genomes]
rs227064	1.00[CEU][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs227066	0.84[EUR][1000 genomes]
rs227067	0.83[EUR][1000 genomes]
rs227068	1.00[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs227069	0.80[CHD][hapmap]
rs227070	1.00[CEU][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs227072	1.00[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs227073	1.00[CEU][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs227074	1.00[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs227075	1.00[CEU][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs227076	0.80[EUR][1000 genomes]
rs227077	1.00[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs227085	0.81[EUR][1000 genomes]
rs227086	0.86[EUR][1000 genomes]
rs227087	1.00[CEU][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs227088	0.86[EUR][1000 genomes]
rs227091	0.85[EUR][1000 genomes]
rs227092	0.92[CEU][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs227093	0.86[EUR][1000 genomes]
rs227094	0.86[EUR][1000 genomes]
rs2356801	1.00[CEU][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap]
rs374443	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3824987	0.91[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs3901851	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs419716	1.00[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs425538	1.00[CEU][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs4585	0.93[CEU][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs4754318	0.86[EUR][1000 genomes]
rs4754324	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5023001	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs573890	1.00[CEU][hapmap];0.88[CHD][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs592955	1.00[CEU][hapmap]
rs595747	1.00[CEU][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs599558	1.00[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs605394	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60683001	0.85[EUR][1000 genomes]
rs609261	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap]
rs609429	0.80[EUR][1000 genomes]
rs609655	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61913892	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61915104	0.85[EUR][1000 genomes]
rs619972	1.00[CEU][hapmap];0.95[TSI][hapmap]
rs620613	1.00[CEU][hapmap]
rs624366	1.00[CEU][hapmap];0.95[GIH][hapmap]
rs645485	1.00[CEU][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap]
rs652311	1.00[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs652541	1.00[CEU][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs654005	1.00[CEU][hapmap]
rs6589019	1.00[CEU][hapmap]
rs660429	1.00[CEU][hapmap]
rs662218	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs662578	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs664143	1.00[CEU][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs664982	0.80[EUR][1000 genomes]
rs673281	1.00[CEU][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap]
rs7112136	0.88[EUR][1000 genomes]
rs7120845	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7126588	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs751343	0.89[ASN][1000 genomes]
rs7931930	1.00[CEU][hapmap];0.80[CHD][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs7934719	0.90[ASN][1000 genomes]
rs7942014	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7943063	0.80[CHD][hapmap]
rs7943203	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7943607	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs893279	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs9667658	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.90[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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs3765632	NPAT	cis	cerebellum	SCAN
rs3765632	TBC1D12	trans	cerebellum	SCAN
rs3765632	DIXDC1	cis	parietal	SCAN
rs3765632	C11orf65	cis	parietal	SCAN
rs3765632	ACAT1	cis	multi-tissue	Pritchard
rs3765632	ACAT1	Cis_1M	lymphoblastoid	RTeQTL
rs3765632	ACAT1	cis	cerebellum	SCAN
rs3765632	ACAT1	cis	parietal	SCAN
rs3765632	C11orf53	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108338200-108359000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:108338200-108367600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:108338600-108364800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:108338600-108367200	Weak transcription	A549	lung
5	chr11:108338600-108367800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:108338800-108354800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:108338800-108356800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:108338800-108356800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:108338800-108356800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:108338800-108357200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:108338800-108367200	Weak transcription	HSMMtube	muscle
12	chr11:108338800-108367400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:108338800-108367400	Weak transcription	HUVEC	blood vessel
14	chr11:108338800-108367600	Weak transcription	Brain Angular Gyrus	brain
15	chr11:108338800-108367600	Weak transcription	Small Intestine	intestine
16	chr11:108338800-108368000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:108339000-108356800	Weak transcription	Brain Germinal Matrix	brain
18	chr11:108339000-108359000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:108339000-108367200	Weak transcription	NHEK	skin
20	chr11:108339000-108367400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:108339000-108368000	Weak transcription	Primary B cells from cord blood	blood
22	chr11:108339000-108368000	Weak transcription	Fetal Brain Female	brain
23	chr11:108339200-108363000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:108339200-108367400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:108339200-108367600	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:108339200-108367800	Weak transcription	Fetal Brain Male	brain
27	chr11:108339200-108368000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:108343000-108361800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:108343200-108353600	Strong transcription	Placenta	Placenta
30	chr11:108344000-108361800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:108344000-108362000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:108344000-108363000	Strong transcription	Dnd41	blood
33	chr11:108344200-108353800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:108344200-108357600	Strong transcription	Adipose Nuclei	Adipose
35	chr11:108344200-108361800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:108344200-108362000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:108344600-108361000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr11:108344800-108357200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:108345000-108358200	Strong transcription	Primary T cells from cord blood	blood
40	chr11:108345400-108353600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:108345400-108355200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:108345800-108355000	Weak transcription	Pancreas	Pancrea
43	chr11:108345800-108359000	Weak transcription	Gastric	stomach
44	chr11:108346000-108364800	Weak transcription	Fetal Heart	heart
45	chr11:108346000-108367200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:108346000-108367600	Weak transcription	Brain Substantia Nigra	brain
47	chr11:108346200-108357000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:108346600-108353600	Weak transcription	Thymus	Thymus
49	chr11:108347200-108358200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:108347400-108353200	Strong transcription	Monocytes-CD14+_RO01746	blood

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