Variant report

Variant	rs11024163
Chromosome Location	chr11:17152696-17152697
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10741724	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10766381	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10832733	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10832734	0.82[AMR][1000 genomes]
rs10832735	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10832736	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10832739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832743	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10832745	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10832746	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10832747	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10832748	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11024143	0.86[EUR][1000 genomes]
rs11024148	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024158	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11024159	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024204	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11024207	0.84[EUR][1000 genomes]
rs11024208	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11024227	0.80[EUR][1000 genomes]
rs1125737	0.88[EUR][1000 genomes]
rs11821773	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12280930	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12286505	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1236309	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1236310	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12804000	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1685932	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1979603	0.87[EUR][1000 genomes]
rs1989405	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2008905	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2052188	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs214900	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs214901	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs214904	0.83[ASN][1000 genomes]
rs214906	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214909	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214910	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214911	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs214912	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs214913	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs214914	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214915	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214916	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214917	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs214918	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214919	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214920	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214921	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214922	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214925	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214926	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs214927	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs214933	0.85[ASN][1000 genomes]
rs214935	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs214936	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214937	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214939	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214940	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2171615	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34591697	0.81[EUR][1000 genomes]
rs35933265	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4356203	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4509731	0.84[EUR][1000 genomes]
rs511119	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs512852	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs527810	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs536628	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs542274	0.88[ASN][1000 genomes]
rs545773	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs550667	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs553711	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs567033	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs577207	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs589319	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59192183	0.82[EUR][1000 genomes]
rs594034	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs598946	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs603618	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61357262	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs615358	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs618331	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs620241	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs621246	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs635802	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6486352	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6486354	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs651513	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs656623	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs662711	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs664382	0.83[ASN][1000 genomes]
rs667984	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs677042	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs677540	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs680205	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7101686	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7106705	0.87[EUR][1000 genomes]
rs7107283	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7118006	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7118443	0.81[EUR][1000 genomes]
rs7123301	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7125607	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7342262	0.87[EUR][1000 genomes]
rs7396382	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7396958	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7478986	0.94[EUR][1000 genomes]
rs7925692	0.86[EUR][1000 genomes]
rs7932916	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7935219	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7937176	0.88[EUR][1000 genomes]
rs7938820	0.81[AFR][1000 genomes]
rs7939750	0.81[AFR][1000 genomes]
rs7940418	0.87[EUR][1000 genomes]
rs7946010	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7946165	0.81[AFR][1000 genomes]
rs7949699	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9919540	0.81[AFR][1000 genomes]
rs9919600	0.81[AFR][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	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv7691	chr11:17151593-17196894	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11024163	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs11024163	OR7E14P	cis	Esophagus Mucosa	GTEx
rs11024163	OR7E14P	cis	Nerve Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17100400-17157200	Weak transcription	Fetal Heart	heart
2	chr11:17105400-17172800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:17106800-17156600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:17107000-17167200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:17108200-17177400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:17108600-17172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:17109800-17158400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:17111600-17182000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:17111800-17157800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:17115800-17154400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:17120400-17157800	Weak transcription	Stomach Mucosa	stomach
12	chr11:17120400-17181600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:17120600-17155800	Weak transcription	Esophagus	oesophagus
14	chr11:17120800-17156200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:17120800-17166200	Weak transcription	Pancreas	Pancrea
16	chr11:17120800-17171800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:17120800-17172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:17121000-17178000	Weak transcription	Psoas Muscle	Psoas
19	chr11:17125400-17172200	Weak transcription	Fetal Brain Male	brain
20	chr11:17125800-17181400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:17126800-17186400	Weak transcription	Colonic Mucosa	Colon
22	chr11:17129800-17158200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:17130200-17174600	Weak transcription	Spleen	Spleen
24	chr11:17130200-17203800	Weak transcription	Aorta	Aorta
25	chr11:17132000-17167800	Weak transcription	Right Ventricle	heart
26	chr11:17132200-17155600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:17132200-17156200	Weak transcription	HSMMtube	muscle
28	chr11:17132200-17163200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:17132800-17154600	Weak transcription	Fetal Thymus	thymus
30	chr11:17135000-17154200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:17135000-17155400	Weak transcription	GM12878-XiMat	blood
32	chr11:17135000-17155800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:17135200-17155200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:17138200-17156000	Weak transcription	Lung	lung
35	chr11:17139000-17171200	Weak transcription	Fetal Brain Female	brain
36	chr11:17139200-17153600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:17139400-17154200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:17140000-17155400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:17140000-17183400	Weak transcription	Small Intestine	intestine
40	chr11:17140200-17154200	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:17142800-17156600	Strong transcription	Liver	Liver
42	chr11:17143000-17163800	Weak transcription	Gastric	stomach
43	chr11:17143200-17153000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:17143400-17153200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:17144200-17192800	Weak transcription	NHDF-Ad	bronchial
46	chr11:17144400-17154800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:17144600-17153600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:17144600-17166600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:17147800-17158000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:17148000-17158000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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