Variant report

Variant	rs11130134
Chromosome Location	chr3:47564145-47564146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47563227..47565346-chr3:47576506..47578189,2	K562	blood:
2	chr3:47563322..47564182-chr3:48199597..48200290,2	K562	blood:
3	chr3:47552497..47556600-chr3:47562247..47564614,6	K562	blood:
4	chr3:47563405..47564597-chr3:47705742..47706701,3	K562	blood:
5	chr3:47564010..47565743-chr3:47604722..47606616,2	MCF-7	breast:
6	chr3:47562617..47565330-chr3:47829264..47832654,4	MCF-7	breast:
7	chr3:47564092..47565770-chr3:47566489..47568024,2	K562	blood:

Variant related genes	Relation type
ENSG00000163832	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1038391	1.00[EUR][1000 genomes]
rs1038393	0.89[AMR][1000 genomes]
rs11714816	1.00[EUR][1000 genomes]
rs13077134	0.89[AMR][1000 genomes]
rs1486916	1.00[EUR][1000 genomes]
rs2170814	1.00[EUR][1000 genomes]
rs2351249	1.00[EUR][1000 genomes]
rs295434	0.89[AMR][1000 genomes]
rs295448	0.89[AMR][1000 genomes]
rs295451	0.89[AMR][1000 genomes]
rs295457	0.89[AMR][1000 genomes]
rs4383546	1.00[EUR][1000 genomes]
rs448018	0.89[AMR][1000 genomes]
rs4858833	1.00[EUR][1000 genomes]
rs4858834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858855	1.00[EUR][1000 genomes]
rs55736379	1.00[EUR][1000 genomes]
rs6770690	0.80[AFR][1000 genomes]
rs6789730	0.89[AMR][1000 genomes]
rs73831515	1.00[EUR][1000 genomes]
rs7621853	0.89[AMR][1000 genomes]
rs900688	0.89[AMR][1000 genomes]
rs900692	0.89[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47555600-47564200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:47555600-47568200	Weak transcription	Right Atrium	heart
3	chr3:47563200-47564400	Enhancers	GM12878-XiMat	blood
4	chr3:47563600-47564200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:47563600-47564200	Enhancers	Placenta	Placenta
6	chr3:47563600-47564400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:47563600-47564400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:47563600-47564400	Enhancers	Fetal Muscle Leg	muscle
9	chr3:47563600-47564600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:47563800-47564200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr3:47563800-47564200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr3:47563800-47564200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:47563800-47564200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr3:47563800-47564200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:47563800-47564200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:47563800-47564200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:47563800-47564200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr3:47563800-47564200	Enhancers	Primary B cells from peripheral blood	blood
19	chr3:47563800-47564200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:47563800-47564200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:47563800-47564200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:47563800-47564200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:47563800-47564200	Enhancers	Liver	Liver
24	chr3:47563800-47564200	Enhancers	Brain Angular Gyrus	brain
25	chr3:47563800-47564200	Enhancers	Brain Anterior Caudate	brain
26	chr3:47563800-47564200	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr3:47563800-47564200	Enhancers	Brain Germinal Matrix	brain
28	chr3:47563800-47564200	Enhancers	Brain Hippocampus Middle	brain
29	chr3:47563800-47564200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr3:47563800-47564200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:47563800-47564200	Enhancers	Brain Substantia Nigra	brain
32	chr3:47563800-47564200	Enhancers	Colonic Mucosa	Colon
33	chr3:47563800-47564200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr3:47563800-47564200	Enhancers	Esophagus	oesophagus
35	chr3:47563800-47564200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr3:47563800-47564200	Enhancers	Fetal Brain Male	brain
37	chr3:47563800-47564200	Enhancers	Fetal Intestine Large	intestine
38	chr3:47563800-47564200	Enhancers	Fetal Lung	lung
39	chr3:47563800-47564200	Enhancers	Ovary	ovary
40	chr3:47563800-47564200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr3:47563800-47564200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr3:47563800-47564200	Enhancers	Rectal Smooth Muscle	rectum
43	chr3:47563800-47564200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr3:47563800-47564200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr3:47563800-47564200	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr3:47563800-47564200	Enhancers	Spleen	Spleen
47	chr3:47563800-47564200	Enhancers	A549	lung
48	chr3:47563800-47564200	Flanking Active TSS	Dnd41	blood
49	chr3:47563800-47564200	Enhancers	Hela-S3	cervix
50	chr3:47563800-47564200	Enhancers	Monocytes-CD14+_RO01746	blood

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