Variant report

Variant	rs2031610
Chromosome Location	chr10:90754487-90754488
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	chr10:90749504-90754868	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr10:90749276-90758032	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ACTA2	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10887877	0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11202918	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12359362	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12775501	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1324551	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1571011	0.81[ASN][1000 genomes]
rs1571013	0.81[ASN][1000 genomes]
rs1800682	0.96[ASN][1000 genomes]
rs1926195	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1926196	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1926197	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1926199	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1926200	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1926201	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1977389	0.81[CEU][hapmap]
rs3740286	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3752986	0.82[CEU][hapmap]
rs3758485	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3824729	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3824730	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3903454	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4934433	0.84[ASN][1000 genomes]
rs4934434	0.91[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6586161	0.83[ASN][1000 genomes]
rs6586163	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6586164	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6586165	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6586166	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6586167	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7069061	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7069841	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7072828	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7082101	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7082720	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7097572	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7897395	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7910660	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7910825	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7911752	0.81[ASN][1000 genomes]
rs7914490	0.96[ASN][1000 genomes]
rs978522	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][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:12)

SNP	Gene	Cis/trans	Tissue	Source
rs2031610	FAS	cis	Nerve Tibial	GTEx
rs2031610	FAS	cis	Adipose Subcutaneous	GTEx
rs2031610	ACTA2	cis	multi-tissue	Pritchard
rs2031610	FAS	cis	hippocampus	BrainEAC
rs2031610	FAS	cis	temporal cortex	BrainEAC
rs2031610	FAS	cis	putamen	BrainEAC
rs2031610	ACTA2-AS1	cis	Whole Blood	GTEx
rs2031610	ACTA2	Cis_1M	lymphoblastoid	RTeQTL
rs2031610	FAS	cis	intralobular white matter	BrainEAC
rs2031610	FAS	cis	Muscle Skeletal	GTEx
rs2031610	FAS	cis	brain	BrainEAC
rs2031610	ACTA2	cis	Whole Blood	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90749600-90755000	Active TSS	GM12878-XiMat	blood
2	chr10:90751800-90755200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:90751800-90768200	Weak transcription	Spleen	Spleen
4	chr10:90752000-90754800	Weak transcription	Stomach Mucosa	stomach
5	chr10:90752000-90755200	Weak transcription	Gastric	stomach
6	chr10:90752000-90755200	Weak transcription	Lung	lung
7	chr10:90752000-90755200	Weak transcription	Pancreas	Pancrea
8	chr10:90752000-90761600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:90752000-90770000	Weak transcription	Placenta	Placenta
10	chr10:90752000-90770800	Weak transcription	Esophagus	oesophagus
11	chr10:90752200-90755200	Weak transcription	Right Ventricle	heart
12	chr10:90752200-90755800	Weak transcription	Fetal Intestine Large	intestine
13	chr10:90752200-90757200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr10:90752200-90760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr10:90752200-90768400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr10:90752800-90755000	Weak transcription	Thymus	Thymus
17	chr10:90752800-90773400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr10:90753000-90754800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr10:90753000-90755000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr10:90753000-90758600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr10:90753000-90761400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr10:90753400-90755000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr10:90753400-90755000	Weak transcription	Fetal Thymus	thymus
24	chr10:90753400-90755200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr10:90753400-90755200	Weak transcription	Left Ventricle	heart
26	chr10:90753400-90755200	Weak transcription	Psoas Muscle	Psoas
27	chr10:90753400-90755200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr10:90753400-90756400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr10:90753400-90756600	Weak transcription	Primary B cells from cord blood	blood
30	chr10:90753400-90761600	Weak transcription	Aorta	Aorta
31	chr10:90753800-90760400	Weak transcription	Brain Anterior Caudate	brain
32	chr10:90754000-90754600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr10:90754000-90754800	Weak transcription	Primary T cells from cord blood	blood
34	chr10:90754000-90755000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr10:90754000-90755000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr10:90754000-90755000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr10:90754000-90755000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr10:90754000-90755200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr10:90754000-90755200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr10:90754000-90755200	Weak transcription	Adipose Nuclei	Adipose
41	chr10:90754000-90755200	Weak transcription	Colonic Mucosa	Colon
42	chr10:90754000-90755200	Weak transcription	Fetal Lung	lung
43	chr10:90754000-90755200	Weak transcription	Small Intestine	intestine
44	chr10:90754000-90755600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr10:90754000-90755800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr10:90754000-90755800	Enhancers	NHEK	skin
47	chr10:90754000-90756600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr10:90754000-90759000	Weak transcription	HSMMtube	muscle
49	chr10:90754000-90760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr10:90754000-90760800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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