Variant report

Variant	rs7911752
Chromosome Location	chr10:90758588-90758589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10887877	0.81[ASN][1000 genomes]
rs12359362	0.81[ASN][1000 genomes]
rs12775232	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12775501	0.81[ASN][1000 genomes]
rs1324551	0.81[ASN][1000 genomes]
rs1571011	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571013	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926191	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1926192	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1926193	0.93[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1926194	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1926196	0.81[ASN][1000 genomes]
rs1977389	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2031610	0.81[ASN][1000 genomes]
rs2031612	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2147420	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2148286	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2148287	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2182408	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2296600	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2296603	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3740286	0.81[ASN][1000 genomes]
rs3752986	0.81[AMR][1000 genomes]
rs3781202	0.81[AMR][1000 genomes]
rs3824729	0.81[ASN][1000 genomes]
rs3824730	0.81[ASN][1000 genomes]
rs4406737	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4406738	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6586163	0.81[ASN][1000 genomes]
rs6586164	0.81[ASN][1000 genomes]
rs6586166	0.81[ASN][1000 genomes]
rs6586167	0.81[ASN][1000 genomes]
rs7069750	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7095466	0.80[AMR][1000 genomes]
rs7096473	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7097572	0.81[ASN][1000 genomes]
rs7910435	0.81[AMR][1000 genomes]
rs913043	0.81[AMR][1000 genomes]
rs9658741	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9658742	0.83[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7911752	ACTA2	cis	multi-tissue	Pritchard
rs7911752	FAS	cis	Muscle Skeletal	GTEx
rs7911752	ACTA2	Cis_1M	lymphoblastoid	RTeQTL
rs7911752	FAS	cis	Adipose Subcutaneous	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	chr10:90752200-90760800	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	chr10:90753000-90758600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr10:90753000-90761400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr10:90753400-90761600	Weak transcription	Aorta	Aorta
11	chr10:90753800-90760400	Weak transcription	Brain Anterior Caudate	brain
12	chr10:90754000-90759000	Weak transcription	HSMMtube	muscle
13	chr10:90754000-90760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:90754000-90760800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr10:90754000-90761000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:90754000-90761000	Weak transcription	Colon Smooth Muscle	Colon
17	chr10:90754000-90761200	Weak transcription	NH-A	brain
18	chr10:90754000-90779400	Weak transcription	HepG2	liver
19	chr10:90754000-90789600	Weak transcription	A549	lung
20	chr10:90754200-90759000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr10:90754200-90759000	Enhancers	NHDF-Ad	bronchial
22	chr10:90754200-90759200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr10:90754200-90759400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:90754200-90759400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:90754200-90760400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr10:90754200-90761000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr10:90754200-90763200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:90754200-90767000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr10:90754400-90759000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr10:90754400-90761200	Weak transcription	HSMM	muscle
31	chr10:90754800-90758600	Enhancers	Primary B cells from peripheral blood	blood
32	chr10:90755400-90759000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:90755400-90759200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:90755400-90760800	Weak transcription	Fetal Thymus	thymus
35	chr10:90755400-90761200	Weak transcription	Thymus	Thymus
36	chr10:90755600-90759400	Weak transcription	Fetal Lung	lung
37	chr10:90755600-90759400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr10:90755600-90761400	Weak transcription	Right Ventricle	heart
39	chr10:90755600-90762600	Weak transcription	Liver	Liver
40	chr10:90755600-90768200	Weak transcription	Lung	lung
41	chr10:90755600-90771400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:90755600-90776000	Weak transcription	Left Ventricle	heart
43	chr10:90755600-90776200	Weak transcription	Pancreas	Pancrea
44	chr10:90755800-90758600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr10:90755800-90759000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr10:90755800-90759000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:90755800-90759000	Weak transcription	Osteobl	bone
48	chr10:90755800-90759200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:90755800-90760200	Weak transcription	Adipose Nuclei	Adipose
50	chr10:90755800-90760400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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