Variant report

Variant	rs1926197
Chromosome Location	chr10:90748626-90748627
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	chr10:90748572-90748772	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
FAS	TF binding region

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

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

rs_ID	r²[population]
rs10788624	0.81[ASN][1000 genomes]
rs10887876	0.81[ASN][1000 genomes]
rs10887877	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11202918	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12359362	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12775501	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1324551	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1800682	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926195	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1926196	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1926199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031610	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3740286	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3758485	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3824729	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3824730	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3903454	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4934433	0.86[ASN][1000 genomes]
rs4934434	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6586160	0.82[ASN][1000 genomes]
rs6586161	0.87[ASN][1000 genomes]
rs6586163	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6586164	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6586165	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6586166	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6586167	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7069061	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7069841	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7072828	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7082101	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7082720	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7097572	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7897395	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7910660	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7910825	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7914490	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978522	0.90[AFR][1000 genomes];0.98[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
rs1926197	FAS	cis	Muscle Skeletal	GTEx
rs1926197	ACTA2	Cis_1M	lymphoblastoid	RTeQTL
rs1926197	FAS	cis	Adipose Subcutaneous	GTEx
rs1926197	ACTA2-AS1	cis	Whole Blood	GTEx
rs1926197	FAS	cis	Nerve Tibial	GTEx
rs1926197	ACTA2	cis	multi-tissue	Pritchard
rs1926197	ACTA2	cis	Whole Blood	GTEx
rs1926197	FAS	cis	Esophagus Muscularis	GTEx

Chromatin state (count:76 , 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	chr10:90735600-90749200	Weak transcription	Fetal Muscle Leg	muscle
3	chr10:90735600-90749200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr10:90739400-90749400	Weak transcription	NHEK	skin
5	chr10:90739600-90749000	Weak transcription	Adipose Nuclei	Adipose
6	chr10:90739600-90749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:90739800-90749200	Weak transcription	HMEC	breast
8	chr10:90740200-90749200	Weak transcription	Left Ventricle	heart
9	chr10:90740800-90749200	Weak transcription	NH-A	brain
10	chr10:90741000-90749200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr10:90741000-90749400	Weak transcription	Spleen	Spleen
12	chr10:90741600-90749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:90741600-90749200	Weak transcription	Psoas Muscle	Psoas
14	chr10:90741600-90749400	Weak transcription	HSMM	muscle
15	chr10:90742800-90749800	Weak transcription	Brain Hippocampus Middle	brain
16	chr10:90743800-90749600	Weak transcription	Fetal Intestine Large	intestine
17	chr10:90744200-90749200	Weak transcription	Fetal Stomach	stomach
18	chr10:90744200-90749200	Weak transcription	Right Atrium	heart
19	chr10:90744200-90749600	Weak transcription	Fetal Intestine Small	intestine
20	chr10:90744200-90750000	Weak transcription	Small Intestine	intestine
21	chr10:90744600-90750000	Weak transcription	Stomach Mucosa	stomach
22	chr10:90745000-90749600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:90745200-90749200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:90745600-90749200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:90745600-90749200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr10:90745600-90750000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:90746400-90749200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr10:90746400-90749800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr10:90746400-90749800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr10:90746600-90748800	Weak transcription	NHDF-Ad	bronchial
31	chr10:90746600-90749200	Weak transcription	Fetal Kidney	kidney
32	chr10:90746600-90749200	Weak transcription	Ovary	ovary
33	chr10:90746600-90749600	Enhancers	Liver	Liver
34	chr10:90746600-90749800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr10:90746800-90749000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr10:90746800-90749200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr10:90746800-90749200	Weak transcription	Aorta	Aorta
38	chr10:90746800-90749800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr10:90747000-90749600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr10:90747000-90749800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr10:90747000-90750000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr10:90747000-90750000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr10:90747200-90748800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:90747200-90749200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr10:90747200-90749200	Weak transcription	Brain Anterior Caudate	brain
46	chr10:90747200-90750000	Enhancers	Primary T cells from cord blood	blood
47	chr10:90747400-90749000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr10:90747400-90749200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr10:90747400-90749200	Enhancers	Fetal Lung	lung
50	chr10:90747400-90749200	Weak transcription	NHLF	lung

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