Variant report

Variant	rs214937
Chromosome Location	chr11:17189552-17189553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10741724	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10766381	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10832733	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10832734	0.80[AMR][1000 genomes]
rs10832735	0.85[EUR][1000 genomes]
rs10832736	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10832739	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832743	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10832745	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10832746	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10832747	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10832748	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11024143	0.83[EUR][1000 genomes]
rs11024148	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11024158	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024159	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11024163	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11024204	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11024207	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024208	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024227	0.81[EUR][1000 genomes]
rs1125737	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11821773	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12280930	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286505	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1236309	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1236310	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12804000	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1685932	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1979603	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1989405	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008905	0.82[EUR][1000 genomes]
rs2052188	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214900	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214901	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214904	0.86[ASN][1000 genomes]
rs214906	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs214907	0.80[ASN][1000 genomes]
rs214909	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214910	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214911	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs214912	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs214913	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs214914	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214915	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214916	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214917	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs214918	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214919	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214920	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214921	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214922	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214923	0.80[ASN][1000 genomes]
rs214925	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs214926	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs214927	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214933	0.88[ASN][1000 genomes]
rs214935	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214936	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214939	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214940	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2171615	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35933265	0.87[EUR][1000 genomes]
rs4356203	0.83[EUR][1000 genomes]
rs4509731	0.85[EUR][1000 genomes]
rs511119	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs512852	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs527810	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536628	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542274	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs545773	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs550667	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs553711	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567033	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs577207	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs589319	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59192183	0.83[EUR][1000 genomes]
rs594034	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs598946	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs603618	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61357262	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs615358	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs618331	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs620241	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621246	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635802	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6486352	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6486354	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs651513	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs656623	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs662711	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664382	0.86[ASN][1000 genomes]
rs667984	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs677042	0.88[ASN][1000 genomes]
rs677540	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs680205	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101686	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7106705	0.84[EUR][1000 genomes]
rs7107283	0.85[EUR][1000 genomes]
rs7118006	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7118443	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7123301	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125607	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7342262	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7396382	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7396958	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7478986	0.91[EUR][1000 genomes]
rs7925692	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7932916	0.85[EUR][1000 genomes]
rs7935219	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7937176	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7940418	0.87[EUR][1000 genomes]
rs7946010	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7949699	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[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
rs214937	OR7E14P	cis	Esophagus Mucosa	GTEx
rs214937	OR7E14P	cis	Nerve Tibial	GTEx
rs214937	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17130200-17203800	Weak transcription	Aorta	Aorta
2	chr11:17144200-17192800	Weak transcription	NHDF-Ad	bronchial
3	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
4	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:17166200-17190200	Weak transcription	NH-A	brain
7	chr11:17167400-17190200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:17167400-17190400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:17167400-17204400	Weak transcription	Thymus	Thymus
10	chr11:17167400-17212600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
12	chr11:17168000-17190200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:17168200-17193800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:17169400-17190600	Weak transcription	HSMM	muscle
15	chr11:17172600-17214600	Weak transcription	Fetal Brain Female	brain
16	chr11:17173600-17190200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:17176600-17190200	Weak transcription	Fetal Intestine Large	intestine
18	chr11:17176800-17190200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:17178600-17189800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:17178800-17195000	Weak transcription	Brain Substantia Nigra	brain
21	chr11:17179600-17190000	Weak transcription	Fetal Kidney	kidney
22	chr11:17181400-17194400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:17182000-17196800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:17182200-17196400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:17182200-17196800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:17182400-17190200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:17184200-17191800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:17184400-17189800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:17184400-17190000	Weak transcription	Dnd41	blood
30	chr11:17184400-17190200	Weak transcription	Primary T cells from cord blood	blood
31	chr11:17184400-17190200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:17184400-17190400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:17184400-17193400	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:17184800-17228800	Weak transcription	Esophagus	oesophagus
35	chr11:17185200-17190200	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:17185200-17195400	Weak transcription	Gastric	stomach
37	chr11:17185800-17190400	Weak transcription	Primary B cells from cord blood	blood
38	chr11:17185800-17193400	Weak transcription	Ovary	ovary
39	chr11:17185800-17207400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:17185800-17212800	Weak transcription	Pancreas	Pancrea
41	chr11:17186400-17189600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:17186400-17191000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:17186600-17190200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:17186600-17193200	Weak transcription	Placenta	Placenta
45	chr11:17186800-17192200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:17186800-17192800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:17187000-17189600	Weak transcription	Osteobl	bone
48	chr11:17187000-17189800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:17187000-17190200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:17187000-17190200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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