Variant report

Variant	rs11130145
Chromosome Location	chr3:47703270-47703271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs1014228	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10865948	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11130138	0.82[AMR][1000 genomes]
rs11130143	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11130144	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11130146	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11130147	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11130148	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130150	0.81[AMR][1000 genomes]
rs11707707	0.89[EUR][1000 genomes]
rs11708849	0.86[AMR][1000 genomes]
rs11712152	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11712464	0.84[EUR][1000 genomes]
rs11714942	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11716582	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11927129	0.82[EUR][1000 genomes]
rs11929303	0.85[EUR][1000 genomes]
rs12492915	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12495204	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12497921	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12498027	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12633604	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12635438	0.91[EUR][1000 genomes]
rs12636198	0.82[EUR][1000 genomes]
rs12636863	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13061412	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13063042	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13064183	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13069142	0.89[EUR][1000 genomes]
rs13070035	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13077230	0.82[AMR][1000 genomes]
rs13079407	0.83[AMR][1000 genomes]
rs13081356	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13084555	0.81[AMR][1000 genomes]
rs13085978	0.86[EUR][1000 genomes]
rs13086149	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs13091913	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13094264	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13098128	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1403578	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1403579	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1464614	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1486915	0.92[AMR][1000 genomes]
rs17079785	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2030596	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2047559	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2049300	0.81[AFR][1000 genomes]
rs2049301	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2101398	0.87[AMR][1000 genomes]
rs2133601	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2140335	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2280567	0.81[EUR][1000 genomes]
rs2293226	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2882611	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34252990	0.83[EUR][1000 genomes]
rs34351471	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34569417	0.87[AMR][1000 genomes]
rs34616865	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34777284	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34906469	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35148469	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35582375	0.82[AMR][1000 genomes]
rs35664069	0.93[EUR][1000 genomes]
rs35698005	0.94[AMR][1000 genomes]
rs3732530	0.81[EUR][1000 genomes]
rs3755637	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3755638	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3772399	0.91[AMR][1000 genomes]
rs3772403	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3888	0.87[AMR][1000 genomes]
rs3915654	0.91[AMR][1000 genomes]
rs4274776	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4410463	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4858801	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4858803	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4858836	0.82[AMR][1000 genomes]
rs4858842	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4858846	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4858851	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4858857	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4858860	0.87[AMR][1000 genomes]
rs55823596	0.80[EUR][1000 genomes]
rs56376646	0.84[EUR][1000 genomes]
rs56746603	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60110914	0.83[AMR][1000 genomes]
rs60322343	0.81[EUR][1000 genomes]
rs61181421	0.90[AMR][1000 genomes]
rs61620099	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61675361	0.87[EUR][1000 genomes]
rs62262129	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62263561	0.80[EUR][1000 genomes]
rs62263575	0.85[AMR][1000 genomes]
rs6442072	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6442074	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6442079	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6442081	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6442082	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6442083	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6442085	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6768699	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6772301	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6773467	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6773732	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6774170	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6777632	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6782998	0.82[AMR][1000 genomes]
rs6785031	0.82[AMR][1000 genomes]
rs6785669	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6786001	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6792350	0.91[AMR][1000 genomes]
rs6792497	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6792737	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6806860	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72906488	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73085151	0.80[EUR][1000 genomes]
rs7429162	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7612219	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7613934	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7618758	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7621236	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7624474	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7631950	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7637372	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7637950	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7638103	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7645846	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7646982	0.90[AMR][1000 genomes]
rs7649393	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs868255	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs869508	0.82[EUR][1000 genomes]
rs870622	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs883661	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs883662	0.87[EUR][1000 genomes]
rs883663	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9757517	0.92[AMR][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	nsv1003072	chr3:47673628-47869154	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv590232	chr3:47681881-47765547	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv876758	chr3:47681881-47842234	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11130145	MRPS18AP1	cis	lung	GTEx
rs11130145	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs11130145	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs11130145	NME6	cis	Esophagus Muscularis	GTEx
rs11130145	ZNF589	cis	Nerve Tibial	GTEx
rs11130145	MRPS18AP1	cis	Nerve Tibial	GTEx
rs11130145	MAP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47654400-47707600	Weak transcription	Stomach Mucosa	stomach
2	chr3:47655800-47765600	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:47656600-47790800	Strong transcription	Fetal Thymus	thymus
4	chr3:47661400-47711400	Weak transcription	Colonic Mucosa	Colon
5	chr3:47672000-47718600	Weak transcription	Right Ventricle	heart
6	chr3:47673600-47719200	Weak transcription	Small Intestine	intestine
7	chr3:47674200-47705000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:47675000-47703800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:47677200-47707400	Weak transcription	HMEC	breast
10	chr3:47677200-47715400	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:47677200-47720000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:47677400-47711600	Weak transcription	Brain Substantia Nigra	brain
13	chr3:47677800-47704600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr3:47677800-47712000	Weak transcription	Brain Angular Gyrus	brain
15	chr3:47678000-47717800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:47682200-47704200	Strong transcription	Primary B cells from cord blood	blood
17	chr3:47683000-47703800	Weak transcription	Esophagus	oesophagus
18	chr3:47684200-47711800	Weak transcription	Ovary	ovary
19	chr3:47684600-47705200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:47684800-47703800	Weak transcription	Lung	lung
21	chr3:47684800-47705200	Weak transcription	Aorta	Aorta
22	chr3:47684800-47718400	Weak transcription	Spleen	Spleen
23	chr3:47688200-47704200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr3:47688200-47705200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:47688200-47763400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:47688600-47710600	Weak transcription	Adipose Nuclei	Adipose
27	chr3:47688600-47718000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:47689800-47711800	Weak transcription	Left Ventricle	heart
29	chr3:47689800-47714200	Weak transcription	Psoas Muscle	Psoas
30	chr3:47692800-47719200	Weak transcription	Gastric	stomach
31	chr3:47693800-47705000	Weak transcription	Pancreas	Pancrea
32	chr3:47694400-47745800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:47695000-47704400	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr3:47695000-47705600	Strong transcription	Liver	Liver
35	chr3:47695000-47713800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr3:47695200-47737200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr3:47695400-47704200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr3:47697000-47709200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:47697200-47703800	Weak transcription	Thymus	Thymus
40	chr3:47697600-47704200	Strong transcription	Hela-S3	cervix
41	chr3:47697800-47704200	Strong transcription	K562	blood
42	chr3:47697800-47706400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr3:47698200-47704200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr3:47698200-47709200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr3:47698400-47703400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:47698400-47731400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:47698600-47705600	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr3:47699000-47705400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:47699000-47712600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr3:47699400-47703600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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