Variant report

Variant	rs6773732
Chromosome Location	chr3:47719262-47719263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1014228	0.81[EUR][1000 genomes]
rs10865948	0.84[AMR][1000 genomes]
rs11130143	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11130144	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11130145	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11130146	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11130147	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11130148	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11707707	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11708849	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11712152	0.92[EUR][1000 genomes]
rs11712464	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11714942	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11716582	0.83[AMR][1000 genomes]
rs11927129	0.88[EUR][1000 genomes]
rs11929303	0.81[EUR][1000 genomes]
rs12492915	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12495204	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12497921	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12498027	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12633604	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12635438	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12636863	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13061412	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13063042	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13064183	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13069142	0.83[EUR][1000 genomes]
rs13070035	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13081356	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13085978	0.82[EUR][1000 genomes]
rs13086149	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13091913	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13094264	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13098128	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1403578	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1403579	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1464614	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1486915	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17079785	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2030596	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2047559	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2049301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101398	0.82[AMR][1000 genomes]
rs2133601	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140335	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2293226	0.83[AMR][1000 genomes]
rs2882611	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34351471	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34569417	0.82[AMR][1000 genomes]
rs34616865	0.80[EUR][1000 genomes]
rs34777284	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34906469	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35148469	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35664069	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35698005	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3755637	0.85[AMR][1000 genomes]
rs3755638	0.82[AMR][1000 genomes]
rs3772399	0.86[AMR][1000 genomes]
rs3772403	0.82[AMR][1000 genomes]
rs3888	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3915654	0.86[AMR][1000 genomes]
rs4274776	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4410463	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858801	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4858803	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4858842	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4858846	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4858851	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4858853	0.84[EUR][1000 genomes]
rs4858857	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4858860	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4858863	0.80[EUR][1000 genomes]
rs55823596	0.85[EUR][1000 genomes]
rs56376646	0.91[EUR][1000 genomes]
rs60110914	0.83[AMR][1000 genomes]
rs61181421	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61620099	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61675361	0.83[EUR][1000 genomes]
rs62262129	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62263561	0.85[EUR][1000 genomes]
rs62263575	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6442072	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6442074	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6442079	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6442081	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6442082	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6442083	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6442085	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6442086	0.81[EUR][1000 genomes]
rs6768699	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6772301	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6774170	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6776963	0.83[EUR][1000 genomes]
rs6777632	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6782998	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6785669	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6786001	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6789835	0.82[AMR][1000 genomes]
rs6792350	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6792497	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6792737	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6806860	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72906488	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73085151	0.85[EUR][1000 genomes]
rs7429162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7612219	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7613934	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7618758	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7621236	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7624474	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7629850	0.80[EUR][1000 genomes]
rs7631950	0.83[AMR][1000 genomes]
rs7637372	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7637950	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7638103	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7642691	0.82[AMR][1000 genomes]
rs7645846	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7646982	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7649393	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs868255	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs870622	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs883661	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs883662	0.83[EUR][1000 genomes]
rs883663	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9757517	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6773732	MRPS18AP1	cis	Nerve Tibial	GTEx
rs6773732	ZNF589	cis	Nerve Tibial	GTEx
rs6773732	MRPS18AP1	cis	lung	GTEx
rs6773732	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs6773732	NME6	cis	Esophagus Muscularis	GTEx
rs6773732	DHX30	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47655800-47765600	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:47656600-47790800	Strong transcription	Fetal Thymus	thymus
3	chr3:47677200-47720000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:47688200-47763400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:47694400-47745800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:47695200-47737200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:47698400-47731400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:47700200-47757000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:47701200-47765000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:47701200-47765600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:47701400-47739800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:47701600-47762200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:47701600-47800400	Strong transcription	Dnd41	blood
14	chr3:47701600-47819800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:47701800-47726800	Weak transcription	Right Atrium	heart
16	chr3:47702200-47790400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:47702800-47722600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:47704000-47788600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:47705600-47727200	Weak transcription	Pancreas	Pancrea
20	chr3:47705600-47742800	Weak transcription	Esophagus	oesophagus
21	chr3:47705800-47739200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:47706200-47728000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr3:47707200-47723000	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr3:47707200-47737000	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr3:47707200-47739400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr3:47707200-47780800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:47707200-47781400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr3:47707400-47721600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr3:47707600-47737400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr3:47707600-47762600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:47708400-47737400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:47708800-47737000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr3:47709000-47722000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:47709000-47725600	Strong transcription	GM12878-XiMat	blood
35	chr3:47709200-47722200	Strong transcription	Liver	Liver
36	chr3:47709400-47734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:47709800-47732400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr3:47710000-47722400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:47710200-47722400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:47710600-47722000	Strong transcription	Adipose Nuclei	Adipose
41	chr3:47710600-47737200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:47710600-47756600	Strong transcription	Placenta	Placenta
43	chr3:47711000-47719600	Strong transcription	Fetal Intestine Small	intestine
44	chr3:47711000-47724200	Strong transcription	HepG2	liver
45	chr3:47711000-47759400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:47711200-47721400	Strong transcription	HSMM	muscle
47	chr3:47711200-47722000	Strong transcription	Fetal Lung	lung
48	chr3:47711200-47739400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr3:47711400-47722000	Strong transcription	Fetal Muscle Leg	muscle
50	chr3:47711400-47732800	Weak transcription	Stomach Mucosa	stomach

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