Variant report

Variant	rs2031613
Chromosome Location	chr10:90766924-90766925
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90760115..90762878-chr10:90763662..90767506,4	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10509561	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs10887879	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11202925	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11202927	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12257092	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800623	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1810764	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926188	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011806	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031611	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147419	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2234978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4064	1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4934435	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4934436	0.96[ASN][1000 genomes]
rs7089946	0.96[ASN][1000 genomes]
rs7092857	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7907684	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916294	1.00[JPT][hapmap]

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	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv551841	chr10:90759724-90775756	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2031613	ACTA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90751800-90768200	Weak transcription	Spleen	Spleen
2	chr10:90752000-90770000	Weak transcription	Placenta	Placenta
3	chr10:90752000-90770800	Weak transcription	Esophagus	oesophagus
4	chr10:90752200-90768400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr10:90752800-90773400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr10:90754000-90779400	Weak transcription	HepG2	liver
7	chr10:90754000-90789600	Weak transcription	A549	lung
8	chr10:90754200-90767000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr10:90755600-90768200	Weak transcription	Lung	lung
10	chr10:90755600-90771400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:90755600-90776000	Weak transcription	Left Ventricle	heart
12	chr10:90755600-90776200	Weak transcription	Pancreas	Pancrea
13	chr10:90756200-90781800	Weak transcription	Stomach Mucosa	stomach
14	chr10:90756800-90769200	Weak transcription	Colonic Mucosa	Colon
15	chr10:90757000-90770800	Weak transcription	Primary B cells from cord blood	blood
16	chr10:90760400-90780400	Weak transcription	Brain Angular Gyrus	brain
17	chr10:90761600-90779000	Weak transcription	Dnd41	blood
18	chr10:90761600-90779400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr10:90761800-90767400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:90761800-90767600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr10:90761800-90768000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr10:90761800-90768200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr10:90761800-90768200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr10:90761800-90769000	Weak transcription	NH-A	brain
25	chr10:90761800-90770800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:90761800-90773200	Weak transcription	Thymus	Thymus
27	chr10:90761800-90774200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr10:90761800-90776200	Weak transcription	Right Ventricle	heart
29	chr10:90761800-90779600	Weak transcription	HSMMtube	muscle
30	chr10:90761800-90779800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:90761800-90783800	Weak transcription	Gastric	stomach
32	chr10:90761800-90786200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr10:90762000-90767200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr10:90762000-90767400	Weak transcription	Fetal Lung	lung
35	chr10:90762000-90770600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:90762000-90775600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr10:90762200-90769000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr10:90762200-90771200	Weak transcription	Brain Anterior Caudate	brain
39	chr10:90762200-90771400	Weak transcription	Fetal Stomach	stomach
40	chr10:90762400-90767400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:90762400-90775400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr10:90762400-90785800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr10:90762600-90767400	Weak transcription	Small Intestine	intestine
44	chr10:90762600-90767600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:90762600-90767600	Weak transcription	Fetal Thymus	thymus
46	chr10:90762600-90773600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr10:90762600-90777400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr10:90762600-90779400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr10:90762600-90780400	Weak transcription	Brain Hippocampus Middle	brain
50	chr10:90762600-90786000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links