Variant report

Variant	rs1926192
Chromosome Location	chr10:90760620-90760621
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	chr10:90760115..90762878-chr10:90763662..90767506,4	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10887882	0.80[ASN][1000 genomes]
rs10887883	0.80[ASN][1000 genomes]
rs12775232	0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1571011	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1571013	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1926191	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1926193	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926194	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1977389	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2031612	0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2147420	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2148286	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2148287	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2182408	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2296600	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2296603	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2296604	0.81[ASN][1000 genomes]
rs3752986	0.81[ASN][1000 genomes]
rs3781202	0.81[ASN][1000 genomes]
rs4406737	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4406738	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7069750	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7095466	0.80[ASN][1000 genomes]
rs7096473	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7901656	0.82[ASN][1000 genomes]
rs7910435	0.82[ASN][1000 genomes]
rs7911752	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs913043	0.81[ASN][1000 genomes]
rs9658741	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9658742	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][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	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1926192	ACTA2	cis	Whole Blood	GTEx
rs1926192	ACTA2-AS1	cis	Whole Blood	GTEx
rs1926192	FAS	cis	Adipose Subcutaneous	GTEx
rs1926192	ACTA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90751800-90768200	Weak transcription	Spleen	Spleen
2	chr10:90752000-90761600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:90752000-90770000	Weak transcription	Placenta	Placenta
4	chr10:90752000-90770800	Weak transcription	Esophagus	oesophagus
5	chr10:90752200-90760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr10:90752200-90768400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr10:90752800-90773400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr10:90753000-90761400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr10:90753400-90761600	Weak transcription	Aorta	Aorta
10	chr10:90754000-90760800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr10:90754000-90761000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:90754000-90761000	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:90754000-90761200	Weak transcription	NH-A	brain
14	chr10:90754000-90779400	Weak transcription	HepG2	liver
15	chr10:90754000-90789600	Weak transcription	A549	lung
16	chr10:90754200-90761000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr10:90754200-90763200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:90754200-90767000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr10:90754400-90761200	Weak transcription	HSMM	muscle
20	chr10:90755400-90760800	Weak transcription	Fetal Thymus	thymus
21	chr10:90755400-90761200	Weak transcription	Thymus	Thymus
22	chr10:90755600-90761400	Weak transcription	Right Ventricle	heart
23	chr10:90755600-90762600	Weak transcription	Liver	Liver
24	chr10:90755600-90768200	Weak transcription	Lung	lung
25	chr10:90755600-90771400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:90755600-90776000	Weak transcription	Left Ventricle	heart
27	chr10:90755600-90776200	Weak transcription	Pancreas	Pancrea
28	chr10:90755800-90762400	Weak transcription	Hela-S3	cervix
29	chr10:90756200-90781800	Weak transcription	Stomach Mucosa	stomach
30	chr10:90756800-90761000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr10:90756800-90769200	Weak transcription	Colonic Mucosa	Colon
32	chr10:90757000-90760800	Weak transcription	Primary T cells from cord blood	blood
33	chr10:90757000-90760800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr10:90757000-90770800	Weak transcription	Primary B cells from cord blood	blood
35	chr10:90757200-90760800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr10:90757200-90760800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:90757200-90761800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr10:90757400-90762600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr10:90757600-90761800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:90758200-90761000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr10:90758400-90760800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:90758600-90761200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr10:90758800-90761600	Active TSS	Ovary	ovary
44	chr10:90759000-90760800	Active TSS	NHLF	lung
45	chr10:90759000-90761200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr10:90759000-90761800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr10:90759000-90761800	Enhancers	Osteobl	bone
48	chr10:90759000-90762200	Flanking Active TSS	GM12878-XiMat	blood
49	chr10:90759200-90760800	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr10:90759200-90760800	Active TSS	NHDF-Ad	bronchial

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