Variant report

Variant	rs6586166
Chromosome Location	chr10:90756065-90756066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:90754863-90756068	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:90749276-90758032	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr10:90755088-90756172	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ACTA2	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10887877	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11202918	0.92[ASN][1000 genomes]
rs12359362	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12775501	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1324551	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1571011	0.81[ASN][1000 genomes]
rs1571013	0.81[ASN][1000 genomes]
rs1800682	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1926195	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1926196	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1926197	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1926199	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1926200	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1926201	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2031610	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2147420	0.81[ASN][1000 genomes]
rs2148287	0.81[ASN][1000 genomes]
rs2182408	0.81[ASN][1000 genomes]
rs3740286	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3758485	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3824729	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3824730	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3903454	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4406737	0.81[ASN][1000 genomes]
rs4406738	0.81[ASN][1000 genomes]
rs4934433	0.82[ASN][1000 genomes]
rs4934434	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6586161	0.83[ASN][1000 genomes]
rs6586163	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6586164	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6586165	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6586167	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7069061	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7069841	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7072828	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7082101	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7082720	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7097572	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7897395	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7910660	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7910825	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7911752	0.81[ASN][1000 genomes]
rs7914490	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs978522	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6586166	ACTA2	cis	multi-tissue	Pritchard
rs6586166	FAS	cis	Adipose Subcutaneous	GTEx
rs6586166	FAS	cis	Nerve Tibial	GTEx
rs6586166	ACTA2	Cis_1M	lymphoblastoid	RTeQTL
rs6586166	FAS	cis	Muscle Skeletal	GTEx
rs6586166	ACTA2-AS1	cis	Whole Blood	GTEx
rs6586166	ACTA2	cis	Whole Blood	GTEx

Chromatin state (count:90 , 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	chr10:90752200-90757200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr10:90752200-90760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr10:90752200-90768400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr10:90752800-90773400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:90753000-90758600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr10:90753000-90761400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr10:90753400-90756400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr10:90753400-90756600	Weak transcription	Primary B cells from cord blood	blood
13	chr10:90753400-90761600	Weak transcription	Aorta	Aorta
14	chr10:90753800-90760400	Weak transcription	Brain Anterior Caudate	brain
15	chr10:90754000-90756600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:90754000-90759000	Weak transcription	HSMMtube	muscle
17	chr10:90754000-90760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:90754000-90760800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:90754000-90761000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:90754000-90761000	Weak transcription	Colon Smooth Muscle	Colon
21	chr10:90754000-90761200	Weak transcription	NH-A	brain
22	chr10:90754000-90779400	Weak transcription	HepG2	liver
23	chr10:90754000-90789600	Weak transcription	A549	lung
24	chr10:90754200-90756400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr10:90754200-90756400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:90754200-90756600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr10:90754200-90757600	Weak transcription	HMEC	breast
28	chr10:90754200-90759000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:90754200-90759000	Enhancers	NHDF-Ad	bronchial
30	chr10:90754200-90759200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:90754200-90759400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:90754200-90759400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:90754200-90760400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr10:90754200-90761000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr10:90754200-90763200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:90754200-90767000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr10:90754400-90759000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr10:90754400-90761200	Weak transcription	HSMM	muscle
39	chr10:90754800-90756200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr10:90754800-90756200	Enhancers	Stomach Mucosa	stomach
41	chr10:90754800-90757000	Enhancers	Primary T cells from cord blood	blood
42	chr10:90754800-90758600	Enhancers	Primary B cells from peripheral blood	blood
43	chr10:90755000-90756200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr10:90755000-90756200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr10:90755000-90757200	Enhancers	Duodenum Mucosa	Duodenum
46	chr10:90755000-90757400	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr10:90755200-90757200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr10:90755200-90757200	Enhancers	Small Intestine	intestine
49	chr10:90755400-90757200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr10:90755400-90759000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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