Variant report

Variant	rs7082720
Chromosome Location	chr10:90742049-90742050
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	chr10:90740958..90743337-chr10:90743863..90746089,2	MCF-7	breast:
2	chr10:90741270..90743271-chr10:90750975..90752667,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD22-2	chr10:90741162-90742712	refGeneNc_781_NR_028371

Variant related genes	Relation type
ENSG00000026103	Chromatin interaction
ENSG00000107796	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs10887877	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11202918	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12359362	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12775501	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1324551	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1800682	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1926195	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1926196	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1926197	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1926199	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1926200	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1926201	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2031610	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3740286	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3758485	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3824729	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3824730	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3903454	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4934433	0.89[ASN][1000 genomes]
rs4934434	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6586160	0.85[ASN][1000 genomes]
rs6586161	0.90[ASN][1000 genomes]
rs6586163	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6586164	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6586165	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6586166	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6586167	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7069061	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7069841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072828	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7082101	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7097572	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7897395	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7910660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7910825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7914490	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs978522	0.88[AFR][1000 genomes];0.95[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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7082720	ACTA2	cis	multi-tissue	Pritchard
rs7082720	FAS	cis	Nerve Tibial	GTEx
rs7082720	ACTA2-AS1	cis	Whole Blood	GTEx
rs7082720	FAS	cis	Esophagus Muscularis	GTEx
rs7082720	ACTA2	cis	Whole Blood	GTEx
rs7082720	ACTA2	Cis_1M	lymphoblastoid	RTeQTL
rs7082720	FAS	cis	Muscle Skeletal	GTEx
rs7082720	FAS	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90735200-90749800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr10:90735600-90746400	Weak transcription	HepG2	liver
3	chr10:90735600-90748600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr10:90735600-90749200	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:90735600-90749200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:90735800-90743800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr10:90735800-90746400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr10:90736400-90742600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:90736400-90743200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr10:90738200-90744200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr10:90738200-90744800	Enhancers	Rectal Smooth Muscle	rectum
12	chr10:90738200-90747800	Enhancers	Colon Smooth Muscle	Colon
13	chr10:90738400-90742600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr10:90739200-90743000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr10:90739200-90745200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:90739400-90742600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:90739400-90743800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr10:90739400-90745000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr10:90739400-90749400	Weak transcription	NHEK	skin
20	chr10:90739600-90742200	Enhancers	Small Intestine	intestine
21	chr10:90739600-90742800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:90739600-90746400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:90739600-90747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:90739600-90748600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr10:90739600-90749000	Weak transcription	Adipose Nuclei	Adipose
26	chr10:90739600-90749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr10:90739800-90742600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:90739800-90742800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr10:90739800-90749200	Weak transcription	HMEC	breast
30	chr10:90740200-90749200	Weak transcription	Left Ventricle	heart
31	chr10:90740400-90746400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr10:90740600-90743000	Enhancers	Stomach Mucosa	stomach
33	chr10:90740600-90745200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr10:90740800-90743000	Weak transcription	Fetal Stomach	stomach
35	chr10:90740800-90749200	Weak transcription	NH-A	brain
36	chr10:90741000-90742200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:90741000-90742800	Enhancers	NHLF	lung
38	chr10:90741000-90743400	Weak transcription	Osteobl	bone
39	chr10:90741000-90745200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:90741000-90747200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:90741000-90747400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:90741000-90749200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr10:90741000-90749400	Weak transcription	Spleen	Spleen
44	chr10:90741400-90743600	Weak transcription	Fetal Intestine Large	intestine
45	chr10:90741400-90744800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:90741600-90742200	Weak transcription	NHDF-Ad	bronchial
47	chr10:90741600-90742400	Weak transcription	Fetal Lung	lung
48	chr10:90741600-90742600	Weak transcription	Liver	Liver
49	chr10:90741600-90742600	Weak transcription	Fetal Intestine Small	intestine
50	chr10:90741600-90742600	Weak transcription	HUVEC	blood vessel

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