Variant report

Variant	rs56746603
Chromosome Location	chr3:47638876-47638877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs1014228	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10865948	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11130138	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11130139	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11130143	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11130144	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11130145	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11130146	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11130147	0.83[AMR][1000 genomes]
rs11712152	0.83[EUR][1000 genomes]
rs11714942	0.84[AMR][1000 genomes]
rs11716582	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11929303	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12492915	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12495204	0.84[AMR][1000 genomes]
rs12497921	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12498027	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12633604	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12636198	0.88[EUR][1000 genomes]
rs12636863	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13061412	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13063042	0.83[AMR][1000 genomes]
rs13064183	0.84[AMR][1000 genomes]
rs13069142	0.85[EUR][1000 genomes]
rs13081356	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13084555	0.90[AMR][1000 genomes]
rs13085978	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13086149	0.86[AMR][1000 genomes]
rs13091913	0.81[AMR][1000 genomes]
rs13098128	0.83[AMR][1000 genomes]
rs1403578	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1403579	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1464614	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1486915	0.83[AMR][1000 genomes]
rs17079785	0.84[AMR][1000 genomes]
rs2030596	0.85[AMR][1000 genomes]
rs2047559	0.85[AMR][1000 genomes]
rs2049300	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2133601	0.83[AMR][1000 genomes]
rs2140335	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2280567	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2293226	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2882611	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34252990	0.92[EUR][1000 genomes]
rs34351471	0.84[AMR][1000 genomes]
rs34616865	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs35148469	0.84[AMR][1000 genomes]
rs35167544	0.82[EUR][1000 genomes]
rs35698005	0.85[AMR][1000 genomes]
rs36033865	0.80[EUR][1000 genomes]
rs3732530	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs3755637	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3755638	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3772399	0.82[AMR][1000 genomes]
rs3772403	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3915654	0.82[AMR][1000 genomes]
rs4274776	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4858801	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4858803	0.84[ASN][1000 genomes]
rs4858835	0.81[AMR][1000 genomes]
rs4858836	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4858842	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4858846	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4858857	0.83[AMR][1000 genomes]
rs60110914	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60322343	0.88[EUR][1000 genomes]
rs61181421	0.83[AMR][1000 genomes]
rs61620099	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61675361	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62262129	0.82[AMR][1000 genomes]
rs6442070	0.81[AMR][1000 genomes]
rs6442072	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6442074	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6442082	0.84[AMR][1000 genomes]
rs6442083	0.84[AMR][1000 genomes]
rs6442085	0.83[AMR][1000 genomes]
rs6767896	0.87[AMR][1000 genomes]
rs6768699	0.84[AMR][1000 genomes]
rs6772301	0.83[AMR][1000 genomes]
rs6774170	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6777632	0.85[AMR][1000 genomes]
rs6780395	0.82[AMR][1000 genomes]
rs6784946	0.89[AMR][1000 genomes]
rs6785031	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6786001	0.84[AMR][1000 genomes]
rs6789835	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6792350	0.82[AMR][1000 genomes]
rs6792497	0.82[AMR][1000 genomes]
rs6792737	0.84[AMR][1000 genomes]
rs6806860	0.84[AMR][1000 genomes]
rs72906488	0.81[AMR][1000 genomes]
rs7612219	0.84[AMR][1000 genomes]
rs7613934	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7618758	0.84[AMR][1000 genomes]
rs7621236	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7624474	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7631950	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7637372	0.85[AMR][1000 genomes]
rs7637950	0.82[AMR][1000 genomes]
rs7642691	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7645846	0.84[AMR][1000 genomes]
rs868255	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs869508	0.90[EUR][1000 genomes]
rs870622	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs883661	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs883662	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs883663	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9757517	0.81[AMR][1000 genomes]
rs9820051	0.81[AMR][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs56746603	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs56746603	NME6	cis	Esophagus Muscularis	GTEx
rs56746603	MRPS18AP1	cis	lung	GTEx
rs56746603	ZNF589	cis	Nerve Tibial	GTEx
rs56746603	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs56746603	MRPS18AP1	cis	Nerve Tibial	GTEx
rs56746603	MRPS18AP1	cis	Muscle Skeletal	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47621000-47651600	Weak transcription	Right Atrium	heart
2	chr3:47621000-47653400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:47622600-47653400	Weak transcription	Stomach Mucosa	stomach
4	chr3:47623400-47655000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:47624000-47653200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:47625400-47651400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:47625600-47651200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:47626000-47641200	Strong transcription	Fetal Thymus	thymus
9	chr3:47626200-47698600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:47626400-47642600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:47626400-47655600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:47626400-47680600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:47626600-47688600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:47626600-47699800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:47626800-47680800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr3:47631000-47650000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:47631200-47642600	Weak transcription	Brain Angular Gyrus	brain
18	chr3:47631200-47650200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:47631400-47644200	Weak transcription	Psoas Muscle	Psoas
20	chr3:47632000-47639200	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:47632000-47648800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr3:47632200-47639200	Weak transcription	HSMMtube	muscle
23	chr3:47632200-47639400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:47632200-47639800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:47632200-47640600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr3:47632200-47641600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr3:47632200-47645400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:47632200-47647200	Weak transcription	HUVEC	blood vessel
29	chr3:47632200-47648400	Weak transcription	NHDF-Ad	bronchial
30	chr3:47632200-47649200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr3:47632200-47649800	Weak transcription	Colonic Mucosa	Colon
32	chr3:47632200-47651200	Weak transcription	Right Ventricle	heart
33	chr3:47632400-47639200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:47632400-47641000	Weak transcription	Brain Anterior Caudate	brain
35	chr3:47632400-47641000	Weak transcription	Left Ventricle	heart
36	chr3:47632400-47641800	Weak transcription	Brain Substantia Nigra	brain
37	chr3:47632400-47646800	Weak transcription	Ovary	ovary
38	chr3:47632400-47651400	Weak transcription	Gastric	stomach
39	chr3:47632400-47651400	Weak transcription	Pancreas	Pancrea
40	chr3:47632400-47652800	Weak transcription	Aorta	Aorta
41	chr3:47632400-47658600	Weak transcription	A549	lung
42	chr3:47632400-47660800	Weak transcription	Esophagus	oesophagus
43	chr3:47632600-47639200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:47632600-47641600	Weak transcription	Brain Hippocampus Middle	brain
45	chr3:47632600-47643400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr3:47632600-47648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:47632800-47639200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:47632800-47639200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr3:47632800-47641800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:47632800-47644200	Weak transcription	Fetal Kidney	kidney

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