Variant report

Variant	rs9658742
Chromosome Location	chr10:90764891-90764892
allele	C/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:
2	chr10:90682113..90684969-chr10:90763834..90765980,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10887882	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10887883	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12775232	0.81[ASN][1000 genomes]
rs1571011	0.83[ASN][1000 genomes]
rs1571013	0.83[ASN][1000 genomes]
rs1571019	0.84[AFR][1000 genomes]
rs1810763	0.82[AFR][1000 genomes]
rs1926191	0.88[ASN][1000 genomes]
rs1926192	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1926193	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1926194	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1977389	0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs2031612	0.83[ASN][1000 genomes]
rs2147420	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2148286	0.85[ASN][1000 genomes]
rs2148287	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2182408	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2296600	0.83[ASN][1000 genomes]
rs2296603	0.89[ASN][1000 genomes]
rs2862833	0.84[AFR][1000 genomes]
rs35150762	0.82[AFR][1000 genomes]
rs3752985	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs3752986	0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3781202	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4406737	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4406738	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7069750	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7095466	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7096473	0.82[ASN][1000 genomes]
rs7901656	0.83[ASN][1000 genomes]
rs7910435	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7910825	0.81[JPT][hapmap]
rs7911226	0.80[ASN][1000 genomes]
rs7911752	0.83[ASN][1000 genomes]
rs913043	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9658741	0.93[ASN][1000 genomes]
rs982764	0.81[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
rs9658742	ACTA2	cis	Whole Blood	GTEx
rs9658742	FAS	cis	Adipose Subcutaneous	GTEx
rs9658742	ACTA2	cis	multi-tissue	Pritchard
rs9658742	ACTA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 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	chr10:90761800-90766800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr10:90761800-90767400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:90761800-90767600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr10:90761800-90768000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr10:90761800-90768200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr10:90761800-90768200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr10:90761800-90769000	Weak transcription	NH-A	brain
26	chr10:90761800-90770800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr10:90761800-90773200	Weak transcription	Thymus	Thymus
28	chr10:90761800-90774200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr10:90761800-90776200	Weak transcription	Right Ventricle	heart
30	chr10:90761800-90779600	Weak transcription	HSMMtube	muscle
31	chr10:90761800-90779800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:90761800-90783800	Weak transcription	Gastric	stomach
33	chr10:90761800-90786200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr10:90762000-90767200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr10:90762000-90767400	Weak transcription	Fetal Lung	lung
36	chr10:90762000-90770600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:90762000-90775600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr10:90762200-90769000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr10:90762200-90771200	Weak transcription	Brain Anterior Caudate	brain
40	chr10:90762200-90771400	Weak transcription	Fetal Stomach	stomach
41	chr10:90762400-90767400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:90762400-90775400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr10:90762400-90785800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:90762600-90766000	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr10:90762600-90767400	Weak transcription	Small Intestine	intestine
46	chr10:90762600-90767600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr10:90762600-90767600	Weak transcription	Fetal Thymus	thymus
48	chr10:90762600-90773600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr10:90762600-90777400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr10:90762600-90779400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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