Variant report

Variant	rs11130187
Chromosome Location	chr3:49307872-49307873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49307035..49308878-chr3:49311378..49313524,2	K562	blood:

Variant related genes	Relation type
ENSG00000264633	Chromatin interaction
ENSG00000188315	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10154992	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10155014	0.81[AMR][1000 genomes]
rs10865956	1.00[ASN][1000 genomes]
rs11130183	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130186	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130190	1.00[ASN][1000 genomes]
rs11710434	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719762	0.81[AMR][1000 genomes]
rs11720542	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720657	1.00[ASN][1000 genomes]
rs12583	1.00[ASN][1000 genomes]
rs12637346	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13084037	1.00[ASN][1000 genomes]
rs13096474	0.81[AMR][1000 genomes]
rs13322887	1.00[ASN][1000 genomes]
rs1464569	0.81[AMR][1000 genomes]
rs2082923	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099526	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140270	1.00[ASN][1000 genomes]
rs2177268	1.00[ASN][1000 genomes]
rs3448	1.00[ASN][1000 genomes]
rs35713889	1.00[ASN][1000 genomes]
rs4384984	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4855853	1.00[ASN][1000 genomes]
rs4955414	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4955417	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4955421	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4955423	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4955427	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4955430	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4955439	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4955443	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56127630	1.00[ASN][1000 genomes]
rs57273516	0.81[AMR][1000 genomes]
rs62259933	1.00[ASN][1000 genomes]
rs62259943	1.00[ASN][1000 genomes]
rs62259944	1.00[ASN][1000 genomes]
rs62259947	1.00[ASN][1000 genomes]
rs6446256	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446257	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446275	1.00[ASN][1000 genomes]
rs6769744	0.81[AMR][1000 genomes]
rs6769821	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778080	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6785045	1.00[ASN][1000 genomes]
rs6805609	1.00[ASN][1000 genomes]
rs6808036	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6809204	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6809851	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72934271	1.00[ASN][1000 genomes]
rs73088137	1.00[ASN][1000 genomes]
rs7355800	1.00[ASN][1000 genomes]
rs7429661	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7613491	1.00[ASN][1000 genomes]
rs7617480	1.00[ASN][1000 genomes]
rs7619016	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7619789	0.81[AMR][1000 genomes]
rs7626076	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7631586	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7638750	1.00[ASN][1000 genomes]
rs7647973	1.00[ASN][1000 genomes]
rs7648995	1.00[ASN][1000 genomes]
rs7651372	1.00[ASN][1000 genomes]
rs8897	1.00[ASN][1000 genomes]
rs9586	1.00[ASN][1000 genomes]
rs974495	0.81[AMR][1000 genomes]
rs9817807	1.00[ASN][1000 genomes]
rs9831648	1.00[ASN][1000 genomes]
rs9834003	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9842132	1.00[ASN][1000 genomes]
rs9860055	1.00[ASN][1000 genomes]
rs9860285	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9861027	1.00[ASN][1000 genomes]
rs9867285	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9871024	1.00[ASN][1000 genomes]
rs9881860	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008750	chr3:49208815-49362401	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv963481	chr3:49304260-49325571	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs11130187	ARIH2	cis	Thyroid	GTEx
rs11130187	WDR6	cis	Nerve Tibial	GTEx
rs11130187	NICN1	cis	Thyroid	GTEx
rs11130187	AMT	cis	Artery Aorta	GTEx
rs11130187	AMT	cis	Muscle Skeletal	GTEx
rs11130187	PFKFB4	cis	Nerve Tibial	GTEx
rs11130187	WDR6	cis	lung	GTEx
rs11130187	NCKIPSD	cis	Esophagus Muscularis	GTEx
rs11130187	AMT	cis	lung	GTEx
rs11130187	WDR6	cis	Heart Left Ventricle	GTEx
rs11130187	AMT	cis	Nerve Tibial	GTEx
rs11130187	NICN1-AS1	cis	Thyroid	GTEx
rs11130187	AMT	cis	Esophagus Mucosa	GTEx
rs11130187	AMT	cis	Adipose Subcutaneous	GTEx
rs11130187	AMT	Cis_1M	lymphoblastoid	RTeQTL
rs11130187	AMT	cis	Artery Tibial	GTEx
rs11130187	AMT	cis	Whole Blood	GTEx
rs11130187	AMT	cis	Thyroid	GTEx
rs11130187	WDR6	cis	Muscle Skeletal	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49286400-49313600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:49293000-49313400	Weak transcription	HSMM	muscle
3	chr3:49293800-49308400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:49294000-49308400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:49294800-49313400	Weak transcription	NHLF	lung
6	chr3:49295000-49313200	Weak transcription	Right Ventricle	heart
7	chr3:49299000-49313600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:49300200-49313400	Weak transcription	HUVEC	blood vessel
9	chr3:49301800-49315600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:49302200-49308600	Enhancers	Fetal Intestine Large	intestine
11	chr3:49302200-49311800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr3:49302800-49313400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:49303400-49309600	Genic enhancers	Fetal Intestine Small	intestine
14	chr3:49303600-49315600	Weak transcription	HepG2	liver
15	chr3:49303800-49309000	Strong transcription	Primary T cells from cord blood	blood
16	chr3:49304200-49313200	Weak transcription	Brain Germinal Matrix	brain
17	chr3:49304200-49313400	Weak transcription	NHDF-Ad	bronchial
18	chr3:49304400-49308200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:49304400-49313200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:49304400-49313400	Weak transcription	Fetal Kidney	kidney
21	chr3:49304400-49313400	Weak transcription	Stomach Mucosa	stomach
22	chr3:49304400-49313600	Weak transcription	Fetal Brain Male	brain
23	chr3:49304800-49311600	Strong transcription	Fetal Stomach	stomach
24	chr3:49304800-49313200	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:49304800-49313200	Weak transcription	Left Ventricle	heart
26	chr3:49304800-49313400	Weak transcription	Osteobl	bone
27	chr3:49304800-49313600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:49304800-49313600	Weak transcription	Liver	Liver
29	chr3:49304800-49314000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:49305000-49308600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:49305000-49310200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:49305000-49312600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:49305000-49313200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:49305000-49313200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr3:49305000-49313400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:49305000-49313400	Weak transcription	Brain Angular Gyrus	brain
37	chr3:49305000-49313400	Weak transcription	Brain Anterior Caudate	brain
38	chr3:49305000-49313400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr3:49305000-49313400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:49305000-49313400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:49305000-49313600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:49305000-49313600	Weak transcription	Brain Substantia Nigra	brain
43	chr3:49305200-49308400	Weak transcription	HMEC	breast
44	chr3:49305200-49311400	Weak transcription	K562	blood
45	chr3:49305200-49313400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:49305400-49313600	Weak transcription	NHEK	skin
47	chr3:49305600-49308000	Weak transcription	Ovary	ovary
48	chr3:49305600-49308400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr3:49305600-49313200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:49305600-49313200	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links