Variant report

Variant	rs1134867
Chromosome Location	chr3:48335808-48335809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:48335073..48340448-chr3:48341483..48344077,7	K562	blood:
2	chr3:48334830..48336828-chr3:48341464..48343510,2	MCF-7	breast:
3	chr3:48320250..48323159-chr3:48334602..48336458,2	K562	blood:
4	chr3:48334818..48337955-chr3:48340564..48344533,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172113	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 35 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1045482	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11130162	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11130163	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11130164	0.82[EUR][1000 genomes]
rs11706221	0.81[EUR][1000 genomes]
rs11706277	0.83[EUR][1000 genomes]
rs11707997	0.81[EUR][1000 genomes]
rs11709691	0.81[EUR][1000 genomes]
rs11710257	0.81[EUR][1000 genomes]
rs11710861	0.81[EUR][1000 genomes]
rs11713476	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11714176	0.83[EUR][1000 genomes]
rs11714944	0.81[EUR][1000 genomes]
rs11716371	0.81[EUR][1000 genomes]
rs11716848	0.81[EUR][1000 genomes]
rs11717716	0.81[EUR][1000 genomes]
rs11718329	0.81[EUR][1000 genomes]
rs11718350	0.83[EUR][1000 genomes]
rs11928691	0.80[EUR][1000 genomes]
rs13059037	0.80[EUR][1000 genomes]
rs13060020	0.81[EUR][1000 genomes]
rs13061269	0.81[EUR][1000 genomes]
rs13066044	0.81[EUR][1000 genomes]
rs13066758	0.84[EUR][1000 genomes]
rs13067450	0.84[EUR][1000 genomes]
rs13068265	0.81[EUR][1000 genomes]
rs13069029	0.83[EUR][1000 genomes]
rs13070210	0.83[EUR][1000 genomes]
rs13071960	0.82[EUR][1000 genomes]
rs13072018	0.82[EUR][1000 genomes]
rs13079728	0.84[EUR][1000 genomes]
rs13081169	0.83[EUR][1000 genomes]
rs13081633	0.83[EUR][1000 genomes]
rs13082158	0.81[EUR][1000 genomes]
rs13082859	0.84[EUR][1000 genomes]
rs13084616	0.84[EUR][1000 genomes]
rs13085251	0.84[EUR][1000 genomes]
rs13090538	0.82[EUR][1000 genomes]
rs13094727	0.82[EUR][1000 genomes]
rs13095983	0.83[EUR][1000 genomes]
rs17647717	0.80[EUR][1000 genomes]
rs2125482	0.82[EUR][1000 genomes]
rs2541	0.84[EUR][1000 genomes]
rs3197223	0.84[EUR][1000 genomes]
rs34076262	0.82[EUR][1000 genomes]
rs34523942	0.84[EUR][1000 genomes]
rs34589064	0.84[EUR][1000 genomes]
rs34630841	0.84[EUR][1000 genomes]
rs34749846	0.84[EUR][1000 genomes]
rs34946886	0.84[EUR][1000 genomes]
rs35190747	0.84[EUR][1000 genomes]
rs35297395	0.84[EUR][1000 genomes]
rs35411187	0.83[EUR][1000 genomes]
rs35778847	0.84[EUR][1000 genomes]
rs35802497	0.84[EUR][1000 genomes]
rs35944878	0.83[EUR][1000 genomes]
rs36075665	0.84[EUR][1000 genomes]
rs36092070	0.81[EUR][1000 genomes]
rs36121690	0.84[EUR][1000 genomes]
rs3937	0.81[EUR][1000 genomes]
rs4130522	0.83[EUR][1000 genomes]
rs4130995	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4131361	0.82[EUR][1000 genomes]
rs4131362	0.82[EUR][1000 genomes]
rs4371540	0.83[EUR][1000 genomes]
rs4392440	0.84[EUR][1000 genomes]
rs4420898	0.81[EUR][1000 genomes]
rs4479622	0.84[EUR][1000 genomes]
rs4511915	0.84[EUR][1000 genomes]
rs4511916	0.84[EUR][1000 genomes]
rs4541431	0.82[EUR][1000 genomes]
rs4619808	0.82[EUR][1000 genomes]
rs4632568	0.82[EUR][1000 genomes]
rs6442110	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6442111	0.81[EUR][1000 genomes]
rs6775179	0.81[EUR][1000 genomes]
rs6782166	0.83[EUR][1000 genomes]
rs6787500	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6791930	0.82[EUR][1000 genomes]
rs6793150	0.83[EUR][1000 genomes]
rs6793223	0.82[EUR][1000 genomes]
rs6793239	0.83[EUR][1000 genomes]
rs6794644	0.82[EUR][1000 genomes]
rs6796490	0.82[EUR][1000 genomes]
rs6800492	0.82[EUR][1000 genomes]
rs6801801	0.82[EUR][1000 genomes]
rs6804986	0.82[EUR][1000 genomes]
rs6806112	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71323394	0.83[EUR][1000 genomes]
rs71323395	0.81[EUR][1000 genomes]
rs71323396	0.81[EUR][1000 genomes]
rs71323397	0.81[EUR][1000 genomes]
rs7614532	0.80[EUR][1000 genomes]
rs7619865	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7621785	0.84[EUR][1000 genomes]
rs7624450	0.84[EUR][1000 genomes]
rs7632297	0.85[EUR][1000 genomes]
rs7645425	0.82[EUR][1000 genomes]
rs7648720	0.81[EUR][1000 genomes]
rs7652233	0.84[EUR][1000 genomes]
rs7653152	0.83[EUR][1000 genomes]
rs7653336	0.82[EUR][1000 genomes]
rs936427	0.81[EUR][1000 genomes]
rs9818937	0.82[EUR][1000 genomes]
rs9819094	0.82[EUR][1000 genomes]
rs9825637	0.82[EUR][1000 genomes]
rs9830016	0.80[EUR][1000 genomes]
rs9833309	0.82[EUR][1000 genomes]
rs9834095	0.82[EUR][1000 genomes]
rs9837228	0.82[EUR][1000 genomes]
rs9846818	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9847953	0.80[EUR][1000 genomes]
rs9850672	0.81[EUR][1000 genomes]
rs9853804	0.82[EUR][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	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv834683	chr3:48301504-48493261	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

mRNA abundance (count:35)

SNP	Gene	Cis/trans	Tissue	Source
rs1134867	ZNF589	cis	Esophagus Mucosa	GTEx
rs1134867	MRPS18AP1	cis	Skin Sun Exposed Lower leg	GTEx
rs1134867	CDC25A	cis	Muscle Skeletal	GTEx
rs1134867	ZNF589	cis	Adipose Subcutaneous	GTEx
rs1134867	MRPS18AP1	cis	Artery Aorta	GTEx
rs1134867	ZNF589	cis	Artery Tibial	GTEx
rs1134867	MRPS18AP1	cis	lung	GTEx
rs1134867	NME6	cis	Artery Tibial	GTEx
rs1134867	MRPS18AP1	cis	Stomach	GTEx
rs1134867	NME6	cis	Skin Sun Exposed Lower leg	GTEx
rs1134867	ZNF589	cis	Whole Blood	GTEx
rs1134867	CDC25A	cis	Artery Tibial	GTEx
rs1134867	MRPS18AP1	cis	Heart Left Ventricle	GTEx
rs1134867	CDC25A	cis	Adipose Subcutaneous	GTEx
rs1134867	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs1134867	NME6	Cis_1M	lymphoblastoid	RTeQTL
rs1134867	ZNF589	cis	Stomach	GTEx
rs1134867	MRPS18AP1	cis	Esophagus Mucosa	GTEx
rs1134867	ZNF589	cis	Skin Sun Exposed Lower leg	GTEx
rs1134867	MRPS18AP1	cis	Esophagus Muscularis	GTEx
rs1134867	MRPS18AP1	cis	Nerve Tibial	GTEx
rs1134867	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs1134867	NME6	cis	Nerve Tibial	GTEx
rs1134867	CDC25A	cis	Thyroid	GTEx
rs1134867	MRPS18AP1	cis	Artery Tibial	GTEx
rs1134867	ZNF589	cis	Artery Aorta	GTEx
rs1134867	MRPS18AP1	cis	Adipose Subcutaneous	GTEx
rs1134867	ZNF589	cis	Thyroid	GTEx
rs1134867	MRPS18AP1	cis	Thyroid	GTEx
rs1134867	ZNF589	Cis_1M	lymphoblastoid	RTeQTL
rs1134867	ZNF589	cis	lung	GTEx
rs1134867	MRPS18AP1	cis	Whole Blood	GTEx
rs1134867	ZNF589	cis	Nerve Tibial	GTEx
rs1134867	NME6	cis	Artery Aorta	GTEx
rs1134867	NME6	cis	Esophagus Muscularis	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48326800-48337800	Weak transcription	Fetal Heart	heart
2	chr3:48328800-48336000	Weak transcription	Fetal Kidney	kidney
3	chr3:48329000-48336000	Weak transcription	HSMMtube	muscle
4	chr3:48329200-48341400	Weak transcription	Small Intestine	intestine
5	chr3:48330200-48340000	Strong transcription	Stomach Smooth Muscle	stomach
6	chr3:48330400-48340200	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr3:48330800-48340200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:48331000-48338600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:48331200-48336400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:48331200-48338200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:48331600-48341200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:48332000-48340400	Strong transcription	Primary B cells from cord blood	blood
13	chr3:48332200-48340000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr3:48332400-48338000	Weak transcription	Fetal Brain Male	brain
15	chr3:48332400-48338800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:48332400-48340000	Strong transcription	Fetal Lung	lung
17	chr3:48332400-48340200	Strong transcription	Primary T cells from cord blood	blood
18	chr3:48332400-48340200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr3:48332400-48340800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:48332600-48336000	Weak transcription	Hela-S3	cervix
21	chr3:48332600-48337000	Strong transcription	Brain Germinal Matrix	brain
22	chr3:48332600-48340200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:48332800-48336000	Weak transcription	Psoas Muscle	Psoas
24	chr3:48332800-48336000	Weak transcription	HepG2	liver
25	chr3:48333000-48336000	Weak transcription	HUVEC	blood vessel
26	chr3:48333000-48336400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr3:48333000-48338000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr3:48333200-48337400	Strong transcription	Lung	lung
29	chr3:48333400-48338400	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:48333400-48340000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:48333400-48340400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:48333600-48336000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:48333600-48336000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:48333600-48339200	Strong transcription	Fetal Muscle Leg	muscle
35	chr3:48333600-48339400	Strong transcription	Left Ventricle	heart
36	chr3:48333600-48339600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:48333600-48339800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:48333600-48340000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:48333600-48340000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr3:48333600-48340000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr3:48333600-48340200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr3:48333600-48340200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr3:48333600-48340200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:48333600-48340200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:48333600-48340600	Strong transcription	Fetal Brain Female	brain
46	chr3:48333800-48339600	Strong transcription	Brain Anterior Caudate	brain
47	chr3:48333800-48340000	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr3:48333800-48340000	Strong transcription	Brain Hippocampus Middle	brain
49	chr3:48333800-48340200	Strong transcription	Fetal Thymus	thymus
50	chr3:48333800-48340400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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