Variant report

Variant	rs214906
Chromosome Location	chr11:17181340-17181341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10741724	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10766381	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10832733	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10832734	0.82[AMR][1000 genomes]
rs10832735	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10832736	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10832739	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10832743	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10832745	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10832746	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10832747	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10832748	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11024143	0.85[EUR][1000 genomes]
rs11024148	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11024158	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11024159	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11024163	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024204	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11024207	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11024208	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11024227	0.80[EUR][1000 genomes]
rs1125737	0.88[EUR][1000 genomes]
rs11821773	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12280930	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12286505	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1236309	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1236310	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12804000	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1685932	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1979603	0.87[EUR][1000 genomes]
rs1989405	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2008905	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2052188	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214900	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214901	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214904	0.85[ASN][1000 genomes]
rs214909	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214910	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214911	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs214912	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs214913	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214914	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214915	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214916	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214917	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs214918	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214919	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214920	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214921	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214922	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214925	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs214926	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214927	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs214933	0.87[ASN][1000 genomes]
rs214935	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214936	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs214937	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs214939	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs214940	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2171615	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35933265	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4356203	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4509731	0.84[EUR][1000 genomes]
rs511119	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs512852	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs527810	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs536628	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs542274	0.91[ASN][1000 genomes]
rs545773	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs550667	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs553711	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs567033	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs577207	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs589319	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59192183	0.82[EUR][1000 genomes]
rs594034	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs598946	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs603618	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61357262	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs615358	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs618331	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs620241	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs621246	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs635802	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6486352	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6486354	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs651513	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs656623	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs662711	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs664382	0.85[ASN][1000 genomes]
rs667984	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs677042	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs677540	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs680205	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7101686	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7106705	0.86[EUR][1000 genomes]
rs7107283	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7118006	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7118443	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7123301	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7125607	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7342262	0.87[EUR][1000 genomes]
rs7396382	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7396958	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7478986	0.92[EUR][1000 genomes]
rs7925692	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7932916	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7935219	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7937176	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7938820	0.81[AFR][1000 genomes]
rs7940418	0.86[EUR][1000 genomes]
rs7946010	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949699	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs214906	OR7E14P	cis	Nerve Tibial	GTEx
rs214906	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs214906	OR7E14P	cis	Esophagus Mucosa	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17111600-17182000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:17120400-17181600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:17125800-17181400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:17126800-17186400	Weak transcription	Colonic Mucosa	Colon
5	chr11:17130200-17203800	Weak transcription	Aorta	Aorta
6	chr11:17140000-17183400	Weak transcription	Small Intestine	intestine
7	chr11:17144200-17192800	Weak transcription	NHDF-Ad	bronchial
8	chr11:17150800-17186000	Weak transcription	NHLF	lung
9	chr11:17156400-17186400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:17156400-17186600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:17156600-17182400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:17156600-17183600	Weak transcription	Lung	lung
13	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
14	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:17164400-17186200	Weak transcription	A549	lung
16	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:17166200-17190200	Weak transcription	NH-A	brain
18	chr11:17166400-17183600	Weak transcription	Fetal Intestine Small	intestine
19	chr11:17167000-17183800	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:17167000-17184000	Weak transcription	Pancreas	Pancrea
21	chr11:17167000-17186000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:17167000-17188600	Weak transcription	Fetal Stomach	stomach
23	chr11:17167000-17188800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:17167400-17181800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:17167400-17183000	Weak transcription	Dnd41	blood
26	chr11:17167400-17183400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr11:17167400-17185000	Weak transcription	Ovary	ovary
28	chr11:17167400-17186800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:17167400-17190200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:17167400-17190400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:17167400-17204400	Weak transcription	Thymus	Thymus
32	chr11:17167400-17212600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
34	chr11:17167600-17181400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:17167600-17182200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:17167600-17186400	Weak transcription	HMEC	breast
37	chr11:17168000-17190200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:17168200-17183600	Weak transcription	Left Ventricle	heart
39	chr11:17168200-17185000	Weak transcription	Right Ventricle	heart
40	chr11:17168200-17193800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:17169400-17185600	Weak transcription	Hela-S3	cervix
42	chr11:17169400-17190600	Weak transcription	HSMM	muscle
43	chr11:17169800-17183200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:17170800-17186400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:17171400-17186200	Weak transcription	Osteobl	bone
46	chr11:17172200-17184000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:17172600-17214600	Weak transcription	Fetal Brain Female	brain
48	chr11:17173000-17182400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:17173000-17183400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr11:17173000-17186600	Weak transcription	NHEK	skin

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