Variant report

Variant	rs7910825
Chromosome Location	chr10:90743341-90743342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10887877	0.91[CEU][hapmap];0.90[YRI][hapmap];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	0.88[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1800682	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1926195	0.88[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1926196	0.92[ASW][hapmap];0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];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]
rs1977389	0.85[JPT][hapmap]
rs2031610	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3740286	0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3752986	0.83[JPT][hapmap]
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	0.90[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3903454	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4934433	0.81[CHB][hapmap];0.89[ASN][1000 genomes]
rs4934434	0.86[CHB][hapmap];0.89[JPT][hapmap];0.87[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6586160	0.85[ASN][1000 genomes]
rs6586161	0.81[CHB][hapmap];0.90[ASN][1000 genomes]
rs6586163	0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6586164	0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6586165	0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];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[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];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]
rs7082720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7097572	0.92[ASW][hapmap];0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];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]
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
rs7910825	ACTA2	cis	multi-tissue	Pritchard
rs7910825	ACTA2	Cis_1M	lymphoblastoid	RTeQTL
rs7910825	ACTA2-AS1	cis	Whole Blood	GTEx
rs7910825	FAS	cis	Nerve Tibial	GTEx
rs7910825	FAS	cis	Adipose Subcutaneous	GTEx
rs7910825	FAS	cis	Muscle Skeletal	GTEx
rs7910825	ACTA2	cis	Whole Blood	GTEx
rs7910825	FAS	cis	Esophagus Muscularis	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	chr10:90738200-90744200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr10:90738200-90744800	Enhancers	Rectal Smooth Muscle	rectum
10	chr10:90738200-90747800	Enhancers	Colon Smooth Muscle	Colon
11	chr10:90739200-90745200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:90739400-90743800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:90739400-90745000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr10:90739400-90749400	Weak transcription	NHEK	skin
15	chr10:90739600-90746400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:90739600-90747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:90739600-90748600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:90739600-90749000	Weak transcription	Adipose Nuclei	Adipose
19	chr10:90739600-90749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:90739800-90749200	Weak transcription	HMEC	breast
21	chr10:90740200-90749200	Weak transcription	Left Ventricle	heart
22	chr10:90740400-90746400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr10:90740600-90745200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr10:90740800-90749200	Weak transcription	NH-A	brain
25	chr10:90741000-90743400	Weak transcription	Osteobl	bone
26	chr10:90741000-90745200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:90741000-90747200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:90741000-90747400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:90741000-90749200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr10:90741000-90749400	Weak transcription	Spleen	Spleen
31	chr10:90741400-90743600	Weak transcription	Fetal Intestine Large	intestine
32	chr10:90741400-90744800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:90741600-90743600	Weak transcription	Ovary	ovary
34	chr10:90741600-90745600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr10:90741600-90749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:90741600-90749200	Weak transcription	Psoas Muscle	Psoas
37	chr10:90741600-90749400	Weak transcription	HSMM	muscle
38	chr10:90742000-90743600	Weak transcription	Right Atrium	heart
39	chr10:90742600-90743600	Active TSS	Aorta	Aorta
40	chr10:90742600-90743600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr10:90742600-90743800	Weak transcription	Brain Anterior Caudate	brain
42	chr10:90742600-90744000	Enhancers	HUVEC	blood vessel
43	chr10:90742600-90744200	Enhancers	Fetal Intestine Small	intestine
44	chr10:90742600-90744600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr10:90742600-90745400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr10:90742600-90746400	Weak transcription	Fetal Kidney	kidney
47	chr10:90742800-90743600	Weak transcription	Small Intestine	intestine
48	chr10:90742800-90746000	Weak transcription	NHLF	lung
49	chr10:90742800-90747200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr10:90742800-90749800	Weak transcription	Brain Hippocampus Middle	brain

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