Variant report

Variant	rs35943823
Chromosome Location	chr3:47903424-47903425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1060407	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1061003	0.85[EUR][1000 genomes]
rs1137524	0.82[EUR][1000 genomes]
rs11707679	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13093830	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1665982	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1684942	0.88[EUR][1000 genomes]
rs184388	0.82[EUR][1000 genomes]
rs2631721	0.84[EUR][1000 genomes]
rs319680	0.99[EUR][1000 genomes]
rs319681	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs319682	0.85[EUR][1000 genomes]
rs319684	0.82[EUR][1000 genomes]
rs319685	0.82[EUR][1000 genomes]
rs319686	0.82[EUR][1000 genomes]
rs319689	0.83[EUR][1000 genomes]
rs319690	0.82[EUR][1000 genomes]
rs319692	0.84[EUR][1000 genomes]
rs319693	0.81[AFR][1000 genomes]
rs319696	0.82[EUR][1000 genomes]
rs34025851	0.82[EUR][1000 genomes]
rs34507589	0.82[EUR][1000 genomes]
rs34750113	0.82[AFR][1000 genomes]
rs35199727	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35314534	0.82[AFR][1000 genomes]
rs3732529	0.82[EUR][1000 genomes]
rs4858863	0.84[AFR][1000 genomes]
rs4858871	0.81[EUR][1000 genomes]
rs60446735	0.82[EUR][1000 genomes]
rs62260764	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6442091	0.80[AFR][1000 genomes]
rs6772396	0.82[EUR][1000 genomes]
rs7429990	0.99[EUR][1000 genomes]
rs7619882	0.80[EUR][1000 genomes]
rs7629850	0.84[AFR][1000 genomes]
rs777014	0.81[EUR][1000 genomes]
rs777015	0.82[EUR][1000 genomes]
rs777017	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs796566	0.82[EUR][1000 genomes]
rs800762	0.88[EUR][1000 genomes]
rs810334	0.82[EUR][1000 genomes]
rs9812875	0.80[EUR][1000 genomes]
rs9850154	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834679	chr3:47749475-47924006	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
2	nsv1006560	chr3:47867461-48037031	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv1011662	chr3:47891634-48019462	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv536561	chr3:47891634-48019462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs35943823	MRPS18AP1	cis	Artery Tibial	GTEx
rs35943823	ZNF589	cis	Artery Tibial	GTEx
rs35943823	NME6	cis	Esophagus Muscularis	GTEx
rs35943823	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs35943823	ZNF589	cis	Nerve Tibial	GTEx
rs35943823	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs35943823	ZNF589	cis	Esophagus Muscularis	GTEx
rs35943823	MRPS18AP1	cis	Esophagus Muscularis	GTEx
rs35943823	MRPS18AP1	cis	Nerve Tibial	GTEx
rs35943823	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs35943823	MRPS18AP1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47867800-47918800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:47868000-47915200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:47868400-47916400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:47868400-47919000	Strong transcription	Fetal Stomach	stomach
5	chr3:47868600-47912200	Strong transcription	Fetal Intestine Small	intestine
6	chr3:47869000-47918600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:47870800-47931800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:47878800-47908400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:47882200-47903600	Strong transcription	Left Ventricle	heart
10	chr3:47884600-47918400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:47885000-47914800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:47889800-47910000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr3:47889800-47912600	Weak transcription	Fetal Heart	heart
14	chr3:47891000-47908400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr3:47891200-47908600	Weak transcription	Fetal Kidney	kidney
16	chr3:47891400-47909600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:47891400-47912000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:47891600-47903600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:47892200-47906800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:47893600-47906600	Weak transcription	Small Intestine	intestine
21	chr3:47894200-47912200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:47894800-47907000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:47894800-47917400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr3:47894800-47919400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:47895800-47906200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:47896600-47919600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr3:47896800-47913200	Strong transcription	Fetal Muscle Leg	muscle
28	chr3:47897600-47904400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:47899000-47903600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:47899000-47904800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:47899000-47905000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:47899000-47905000	Weak transcription	NHDF-Ad	bronchial
33	chr3:47899000-47906400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:47899000-47906800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:47899000-47906800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr3:47899000-47908400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr3:47899000-47908400	Weak transcription	Stomach Mucosa	stomach
38	chr3:47899000-47908600	Weak transcription	Hela-S3	cervix
39	chr3:47899000-47910800	Weak transcription	Fetal Brain Male	brain
40	chr3:47899000-47911200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr3:47899000-47919000	Weak transcription	Right Atrium	heart
42	chr3:47899200-47904400	Weak transcription	Primary B cells from cord blood	blood
43	chr3:47899200-47904800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr3:47899200-47905000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr3:47899200-47905000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr3:47899200-47905000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr3:47899200-47905000	Weak transcription	Pancreas	Pancrea
48	chr3:47899200-47905200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr3:47899200-47905200	Weak transcription	K562	blood
50	chr3:47899200-47906400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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