Variant report

Variant	rs3755638
Chromosome Location	chr3:47622331-47622332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:47620395-47626693	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47551581..47553760-chr3:47622296..47624873,2	K562	blood:

Variant related genes	Relation type
CSPG5	TF binding region
ENSG00000163832	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs1014228	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10865948	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130138	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11130139	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11130143	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11130144	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11130145	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11130146	0.87[AMR][1000 genomes]
rs11130147	0.85[AMR][1000 genomes]
rs11130148	0.82[AMR][1000 genomes]
rs11712152	0.82[EUR][1000 genomes]
rs11714942	0.86[AMR][1000 genomes]
rs11716582	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11929303	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12489865	0.86[EUR][1000 genomes]
rs12492915	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12495204	0.86[AMR][1000 genomes]
rs12497921	0.87[AMR][1000 genomes]
rs12498027	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12633604	0.84[AMR][1000 genomes]
rs12636198	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12636863	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13061412	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13063042	0.85[AMR][1000 genomes]
rs13064183	0.86[AMR][1000 genomes]
rs13069142	0.84[EUR][1000 genomes]
rs13070035	0.82[AMR][1000 genomes]
rs13081356	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13084555	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13085978	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13086149	0.89[AMR][1000 genomes]
rs13091913	0.83[AMR][1000 genomes]
rs13094264	0.82[AMR][1000 genomes]
rs13098128	0.85[AMR][1000 genomes]
rs1403578	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1403579	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1464614	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1486915	0.85[AMR][1000 genomes]
rs17079785	0.86[AMR][1000 genomes]
rs2030596	0.87[AMR][1000 genomes]
rs2047559	0.87[AMR][1000 genomes]
rs2049300	0.89[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2049301	0.82[AMR][1000 genomes]
rs2101398	0.80[AMR][1000 genomes]
rs2133601	0.85[AMR][1000 genomes]
rs2140335	0.87[AMR][1000 genomes]
rs2280567	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2293226	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2882611	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34252990	0.89[EUR][1000 genomes]
rs34351471	0.86[AMR][1000 genomes]
rs34569417	0.80[AMR][1000 genomes]
rs34616865	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs34777284	0.82[AMR][1000 genomes]
rs34906469	0.81[AMR][1000 genomes]
rs35148469	0.86[AMR][1000 genomes]
rs35167544	0.90[EUR][1000 genomes]
rs35698005	0.87[AMR][1000 genomes]
rs36033865	0.88[EUR][1000 genomes]
rs3732530	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3755637	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772399	0.84[AMR][1000 genomes]
rs3772403	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3888	0.81[AMR][1000 genomes]
rs3915654	0.84[AMR][1000 genomes]
rs4274776	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4410463	0.82[AMR][1000 genomes]
rs4858801	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4858803	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4858835	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4858836	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4858842	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4858846	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4858851	0.82[AMR][1000 genomes]
rs4858857	0.85[AMR][1000 genomes]
rs4858860	0.81[AMR][1000 genomes]
rs56746603	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60110914	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60322343	0.97[EUR][1000 genomes]
rs61181421	0.85[AMR][1000 genomes]
rs61620099	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61675361	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62262129	0.84[AMR][1000 genomes]
rs62263575	0.81[AMR][1000 genomes]
rs6442070	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6442071	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6442072	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6442074	0.85[AMR][1000 genomes]
rs6442081	0.82[AMR][1000 genomes]
rs6442082	0.86[AMR][1000 genomes]
rs6442083	0.86[AMR][1000 genomes]
rs6442085	0.85[AMR][1000 genomes]
rs6767896	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6767996	0.82[AMR][1000 genomes]
rs6768699	0.86[AMR][1000 genomes]
rs6772301	0.85[AMR][1000 genomes]
rs6773467	0.82[AMR][1000 genomes]
rs6773732	0.82[AMR][1000 genomes]
rs6774170	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6777632	0.87[AMR][1000 genomes]
rs6780395	0.84[AMR][1000 genomes]
rs6782707	0.80[EUR][1000 genomes]
rs6784946	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6785031	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6785669	0.81[AMR][1000 genomes]
rs6786001	0.86[AMR][1000 genomes]
rs6789835	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6792350	0.84[AMR][1000 genomes]
rs6792497	0.84[AMR][1000 genomes]
rs6792737	0.86[AMR][1000 genomes]
rs6806860	0.86[AMR][1000 genomes]
rs72906488	0.83[AMR][1000 genomes]
rs7429162	0.82[AMR][1000 genomes]
rs7612219	0.86[AMR][1000 genomes]
rs7613934	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7618758	0.86[AMR][1000 genomes]
rs7621236	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7624474	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7631950	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7637372	0.87[AMR][1000 genomes]
rs7637950	0.84[AMR][1000 genomes]
rs7638103	0.82[AMR][1000 genomes]
rs7642691	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7645846	0.86[AMR][1000 genomes]
rs7646982	0.81[AMR][1000 genomes]
rs7649393	0.82[AMR][1000 genomes]
rs868255	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs869508	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs870622	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs883661	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs883662	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs883663	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9757517	0.83[AMR][1000 genomes]
rs9820051	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs3755638	MRPS18AP1	cis	Nerve Tibial	GTEx
rs3755638	NME6	cis	Esophagus Muscularis	GTEx
rs3755638	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs3755638	MRPS18AP1	cis	lung	GTEx
rs3755638	ZNF589	cis	Nerve Tibial	GTEx
rs3755638	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs3755638	DHX30	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47620400-47627000	Weak transcription	Hela-S3	cervix
2	chr3:47620600-47625400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:47620800-47626800	Weak transcription	Gastric	stomach
4	chr3:47620800-47626800	Weak transcription	Left Ventricle	heart
5	chr3:47620800-47626800	Weak transcription	HSMMtube	muscle
6	chr3:47621000-47623000	Weak transcription	Pancreas	Pancrea
7	chr3:47621000-47626800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:47621000-47626800	Weak transcription	A549	lung
9	chr3:47621000-47627000	Weak transcription	Aorta	Aorta
10	chr3:47621000-47628400	Weak transcription	Brain Substantia Nigra	brain
11	chr3:47621000-47628800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr3:47621000-47629000	Weak transcription	Right Ventricle	heart
13	chr3:47621000-47651600	Weak transcription	Right Atrium	heart
14	chr3:47621000-47653400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr3:47621200-47623400	Weak transcription	Fetal Brain Female	brain
16	chr3:47621200-47624200	Weak transcription	Psoas Muscle	Psoas
17	chr3:47621200-47625000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:47621200-47626600	Weak transcription	K562	blood
19	chr3:47621200-47626800	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:47621200-47627000	Weak transcription	Lung	lung
21	chr3:47621200-47627000	Weak transcription	Ovary	ovary
22	chr3:47621200-47627200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:47621200-47628200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:47621200-47630600	Weak transcription	Fetal Brain Male	brain
25	chr3:47621400-47623200	Weak transcription	Brain Germinal Matrix	brain
26	chr3:47621400-47623400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:47621400-47626800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:47621400-47628200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr3:47621600-47625800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:47621600-47627000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr3:47621600-47630600	Weak transcription	Brain Angular Gyrus	brain
32	chr3:47621800-47626800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr3:47621800-47629000	Weak transcription	Brain Anterior Caudate	brain
34	chr3:47621800-47630600	Weak transcription	Fetal Heart	heart
35	chr3:47622000-47623000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:47622000-47624000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:47622000-47625000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:47622000-47625000	Weak transcription	HSMM	muscle
39	chr3:47622000-47626400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:47622000-47626400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:47622000-47626600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:47622000-47626600	Weak transcription	NH-A	brain
43	chr3:47622000-47626800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr3:47622000-47627800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr3:47622000-47628000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr3:47622200-47625400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr3:47622200-47625400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:47622200-47626200	Weak transcription	Fetal Intestine Small	intestine
49	chr3:47622200-47626200	Weak transcription	Fetal Stomach	stomach
50	chr3:47622200-47626400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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