Variant report

Variant	rs1926195
Chromosome Location	chr10:90753758-90753759
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	chr10:90753582-90754157	GM12892	blood:	n/a	n/a
2	RELA	chr10:90753697-90754277	GM12892	blood:	n/a	chr10:90754049-90754058 chr10:90754049-90754058
3	RELA	chr10:90753740-90754267	GM19193	blood:	n/a	chr10:90754049-90754058 chr10:90754049-90754058
4	RUNX3	chr10:90753695-90754278	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:90752453-90754259	GM18505	blood:	n/a	n/a
6	BCLAF1	chr10:90753563-90754179	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:90753664-90754156	GM12878	blood:	n/a	n/a
8	EP300	chr10:90753710-90754251	GM12878	blood:	n/a	n/a
9	FOXM1	chr10:90753591-90754335	GM12878	blood:	n/a	n/a
10	POLR2A	chr10:90749504-90754868	MCF10A-Er-Src	breast:	n/a	n/a
11	ATF2	chr10:90753631-90754307	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:90753611-90754117	GM12891	blood:	n/a	n/a
13	PML	chr10:90753467-90754276	GM12878	blood:	n/a	n/a
14	POLR2A	chr10:90753722-90754126	GM12878	blood:	n/a	n/a
15	MTA3	chr10:90753571-90754298	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:90753714-90753952	ProgFib	skin:	n/a	n/a
17	POLR2A	chr10:90752372-90754279	GM12878	blood:	n/a	n/a
18	RELA	chr10:90753727-90754264	GM12891	blood:	n/a	chr10:90754049-90754058 chr10:90754049-90754058
19	RELA	chr10:90753694-90754352	GM18951	blood:	n/a	chr10:90754049-90754058 chr10:90754049-90754058
20	BCLAF1	chr10:90753596-90754174	GM12878	blood:	n/a	n/a
21	ZNF143	chr10:90753754-90754142	GM12878	blood:	n/a	n/a
22	POLR2A	chr10:90752522-90754223	GM12891	blood:	n/a	n/a
23	POLR2A	chr10:90752939-90754470	GM12878	blood:	n/a	n/a
24	NFIC	chr10:90753669-90754444	GM12878	blood:	n/a	n/a
25	WRNIP1	chr10:90753741-90753941	GM12878	blood:	n/a	n/a
26	RELA	chr10:90753646-90754413	GM12878	blood:	n/a	chr10:90754049-90754058 chr10:90754049-90754058
27	POLR2A	chr10:90749814-90754387	GM12878	blood:	n/a	n/a
28	POLR2A	chr10:90752533-90754479	GM12892	blood:	n/a	n/a
29	POLR2A	chr10:90753477-90754203	GM12878	blood:	n/a	n/a
30	EBF1	chr10:90753691-90754227	GM12878	blood:	n/a	n/a
31	TBP	chr10:90752480-90754300	GM12878	blood:	n/a	n/a
32	STAT5A	chr10:90753620-90754126	GM12878	blood:	n/a	n/a
33	CHD1	chr10:90749926-90754225	GM12878	blood:	n/a	n/a
34	POLR2A	chr10:90753614-90754135	GM12891	blood:	n/a	n/a
35	MTA3	chr10:90753650-90754168	GM12878	blood:	n/a	n/a
36	POLR2A	chr10:90753607-90754145	GM12892	blood:	n/a	n/a
37	POLR2A	chr10:90749275-90754183	GM19099	blood:	n/a	n/a
38	POLR2A	chr10:90753651-90754165	U87	brain:	n/a	n/a
39	PML	chr10:90753698-90754088	GM12878	blood:	n/a	n/a
40	POU2F2	chr10:90753572-90754122	GM12878	blood:	n/a	n/a
41	POLR2A	chr10:90749276-90758032	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr10:90753610-90754163	GM12891	blood:	n/a	n/a
43	RELA	chr10:90753664-90754262	GM18505	blood:	n/a	chr10:90754049-90754058 chr10:90754049-90754058
44	POLR2A	chr10:90753549-90754153	GM12892	blood:	n/a	n/a
45	POLR2A	chr10:90753643-90754173	GM18951	blood:	n/a	n/a
46	POLR2A	chr10:90753624-90754144	GM12891	blood:	n/a	n/a
47	NFATC1	chr10:90753533-90754160	GM12878	blood:	n/a	n/a
48	RELA	chr10:90753729-90754279	GM19099	blood:	n/a	chr10:90754049-90754058 chr10:90754049-90754058
49	POLR2A	chr10:90752619-90754171	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90746474..90748113-chr10:90751872..90754372,2	K562	blood:

Variant related genes	Relation type
ACTA2	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10887876	0.80[CHB][hapmap]
rs10887877	1.00[CEU][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11202918	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12359362	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12775501	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1324551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1800682	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1926196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1926197	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1926199	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1926200	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1926201	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1977389	0.90[JPT][hapmap]
rs2031610	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3740286	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3752985	0.85[JPT][hapmap]
rs3752986	0.90[JPT][hapmap]
rs3758485	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3781204	0.80[ASN][1000 genomes]
rs3824729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3824730	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3903454	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4934433	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs4934434	0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6586160	0.80[CHB][hapmap]
rs6586161	0.90[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs6586163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6586164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6586165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6586166	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6586167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7069061	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7069841	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7072828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7076197	0.80[ASN][1000 genomes]
rs7082101	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7082720	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7097467	0.84[CHB][hapmap];0.80[ASN][1000 genomes]
rs7097572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7897395	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7910660	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7910825	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]
rs7914490	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs978522	0.88[AFR][1000 genomes];0.94[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1926195	ACTA2	cis	multi-tissue	Pritchard
rs1926195	ACTA2	Cis_1M	lymphoblastoid	RTeQTL
rs1926195	FAS	cis	Adipose Subcutaneous	GTEx
rs1926195	ACTA2	cis	Whole Blood	GTEx
rs1926195	ACTA2-AS1	cis	Whole Blood	GTEx
rs1926195	FAS	cis	Muscle Skeletal	GTEx
rs1926195	FAS	cis	Nerve Tibial	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90749400-90754200	Active TSS	Ovary	ovary
2	chr10:90749600-90754200	Active TSS	Right Atrium	heart
3	chr10:90749600-90754400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr10:90749600-90755000	Active TSS	GM12878-XiMat	blood
5	chr10:90749800-90753800	Active TSS	NHLF	lung
6	chr10:90750400-90753800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:90751200-90754000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:90751600-90754200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr10:90751800-90754000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:90751800-90754200	Flanking Active TSS	Osteobl	bone
11	chr10:90751800-90755200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:90751800-90768200	Weak transcription	Spleen	Spleen
13	chr10:90752000-90754000	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr10:90752000-90754200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:90752000-90754200	Active TSS	Stomach Smooth Muscle	stomach
16	chr10:90752000-90754800	Weak transcription	Stomach Mucosa	stomach
17	chr10:90752000-90755200	Weak transcription	Gastric	stomach
18	chr10:90752000-90755200	Weak transcription	Lung	lung
19	chr10:90752000-90755200	Weak transcription	Pancreas	Pancrea
20	chr10:90752000-90761600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr10:90752000-90770000	Weak transcription	Placenta	Placenta
22	chr10:90752000-90770800	Weak transcription	Esophagus	oesophagus
23	chr10:90752200-90754000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:90752200-90754000	Active TSS	Colonic Mucosa	Colon
25	chr10:90752200-90754000	Active TSS	Rectal Smooth Muscle	rectum
26	chr10:90752200-90754000	Enhancers	A549	lung
27	chr10:90752200-90754000	Enhancers	Dnd41	blood
28	chr10:90752200-90754000	Flanking Active TSS	NHEK	skin
29	chr10:90752200-90754200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr10:90752200-90754400	Enhancers	Primary B cells from peripheral blood	blood
31	chr10:90752200-90755200	Weak transcription	Right Ventricle	heart
32	chr10:90752200-90755800	Weak transcription	Fetal Intestine Large	intestine
33	chr10:90752200-90757200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr10:90752200-90760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr10:90752200-90768400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr10:90752400-90754000	Enhancers	Primary T cells from cord blood	blood
37	chr10:90752400-90754000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr10:90752400-90754000	Enhancers	HepG2	liver
39	chr10:90752400-90754200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr10:90752400-90754200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr10:90752400-90754200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:90752400-90754400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:90752600-90754000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr10:90752600-90754000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr10:90752800-90754000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr10:90752800-90754000	Enhancers	Small Intestine	intestine
47	chr10:90752800-90754200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:90752800-90754200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr10:90752800-90754200	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr10:90752800-90754400	Enhancers	Cortex derived primary cultured neurospheres	brain

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