Variant report

Variant	rs11645193
Chromosome Location	chr16:48594229-48594230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs1039340	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039341	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039342	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039343	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039344	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1106386	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11076570	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11076571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11076572	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11076573	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11076578	0.81[EUR][1000 genomes]
rs1115758	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1115759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1120275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1120276	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11495819	0.82[EUR][1000 genomes]
rs11640119	0.85[ASN][1000 genomes]
rs11640463	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11641458	0.85[EUR][1000 genomes]
rs11641510	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11643264	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11643272	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11644518	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11647046	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11647048	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11648101	0.82[EUR][1000 genomes]
rs11649236	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11859909	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1224	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12444902	0.84[ASN][1000 genomes]
rs12446280	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12597928	0.81[EUR][1000 genomes]
rs12598514	0.82[EUR][1000 genomes]
rs12933948	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12935540	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13330784	0.86[ASN][1000 genomes]
rs13331298	0.84[ASN][1000 genomes]
rs13331902	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13332125	0.86[ASN][1000 genomes]
rs13335847	0.85[EUR][1000 genomes]
rs1386040	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1386042	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1477134	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1486411	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1486412	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1564979	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1564980	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16946340	0.81[AMR][1000 genomes]
rs16946342	0.85[EUR][1000 genomes]
rs17826468	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1825683	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1872652	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1872654	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1872655	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1909765	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1987061	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2041921	0.81[EUR][1000 genomes]
rs2080507	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2080508	0.82[EUR][1000 genomes]
rs2101372	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2129243	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2354578	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2354579	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28432694	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28481630	0.86[ASN][1000 genomes]
rs28577888	0.82[EUR][1000 genomes]
rs2883475	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2883641	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34813315	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36077931	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743779	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743780	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817029	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3826174	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3843724	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3848319	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3848320	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3848321	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3848322	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4277341	0.83[ASN][1000 genomes]
rs4471681	0.84[ASN][1000 genomes]
rs4493038	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4785247	0.84[EUR][1000 genomes]
rs4785248	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4785528	0.83[EUR][1000 genomes]
rs55671623	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55782524	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57903644	0.83[ASN][1000 genomes]
rs61098261	0.81[ASN][1000 genomes]
rs6500395	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6500396	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6500397	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6500398	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6500405	0.82[EUR][1000 genomes]
rs7184070	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7184144	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7185541	0.84[ASN][1000 genomes]
rs7187513	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188741	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7191028	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7191225	0.86[ASN][1000 genomes]
rs7192297	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7194570	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7195684	0.81[EUR][1000 genomes]
rs7196823	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7197732	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7198145	0.84[ASN][1000 genomes]
rs7198773	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7199206	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7199625	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7201196	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7204345	0.84[ASN][1000 genomes]
rs74017013	0.84[ASN][1000 genomes]
rs8044519	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8050844	0.84[ASN][1000 genomes]
rs8052073	0.82[EUR][1000 genomes]
rs8052640	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8053598	0.86[EUR][1000 genomes]
rs8057165	0.84[EUR][1000 genomes]
rs8057777	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8058362	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8059819	0.82[EUR][1000 genomes]
rs8059905	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs868792	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs871902	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924476	0.91[EUR][1000 genomes]
rs989070	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9921737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9922356	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9922734	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9923371	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9923753	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9924078	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9924483	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9925406	0.85[EUR][1000 genomes]
rs9927888	0.91[EUR][1000 genomes]
rs9928051	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9930199	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9931123	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9931737	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9933187	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9933329	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9933976	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934626	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9934844	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9936004	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936271	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9936445	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9936446	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9936454	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9937134	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937568	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9937610	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9937623	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938126	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938308	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9938890	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9939103	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941275	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941336	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11645193	N4BP1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48577200-48596800	Weak transcription	Colonic Mucosa	Colon
2	chr16:48578400-48601800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:48580800-48594600	Weak transcription	Fetal Kidney	kidney
4	chr16:48583800-48617800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:48585400-48594600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:48586200-48597400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr16:48586400-48594400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:48587400-48594400	Weak transcription	Fetal Thymus	thymus
9	chr16:48587400-48594800	Enhancers	Fetal Heart	heart
10	chr16:48588400-48594800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr16:48588800-48596000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr16:48588800-48597200	Enhancers	Liver	Liver
13	chr16:48589000-48595800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr16:48589200-48594400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr16:48589400-48594600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr16:48589400-48594800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr16:48589400-48594800	Weak transcription	Pancreas	Pancrea
18	chr16:48589400-48601400	Weak transcription	Gastric	stomach
19	chr16:48589400-48603400	Weak transcription	Esophagus	oesophagus
20	chr16:48589400-48608800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:48589400-48609400	Weak transcription	Thymus	Thymus
22	chr16:48589400-48609600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:48590000-48596400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr16:48590000-48604200	Weak transcription	Spleen	Spleen
25	chr16:48590800-48595800	Genic enhancers	HepG2	liver
26	chr16:48591200-48594400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr16:48591200-48607600	Weak transcription	Hela-S3	cervix
28	chr16:48591200-48611400	Weak transcription	Fetal Intestine Small	intestine
29	chr16:48591200-48611600	Weak transcription	Fetal Brain Female	brain
30	chr16:48591400-48594600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr16:48591400-48595800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:48591400-48617200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:48591600-48595800	Weak transcription	A549	lung
34	chr16:48591600-48596200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr16:48592200-48594800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:48592400-48595000	Enhancers	Psoas Muscle	Psoas
37	chr16:48592400-48595400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:48592400-48596200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:48592600-48596200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr16:48592600-48613400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr16:48592800-48594400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr16:48592800-48594400	Enhancers	Brain Hippocampus Middle	brain
43	chr16:48592800-48594400	Weak transcription	NHDF-Ad	bronchial
44	chr16:48592800-48594600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr16:48592800-48594600	Weak transcription	NH-A	brain
46	chr16:48592800-48594800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr16:48592800-48596000	Weak transcription	Fetal Brain Male	brain
48	chr16:48592800-48596800	Enhancers	Brain Cingulate Gyrus	brain
49	chr16:48592800-48603200	Weak transcription	Stomach Mucosa	stomach
50	chr16:48592800-48611000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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