Variant report

Variant	rs3781204
Chromosome Location	chr10:90752343-90752344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:90749923-90752668	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:90749504-90754868	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr10:90749814-90754387	GM12878	blood:	n/a	n/a
4	CHD1	chr10:90749926-90754225	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:90749275-90754183	GM19099	blood:	n/a	n/a
6	POLR2A	chr10:90749276-90758032	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90746474..90748113-chr10:90751872..90754372,2	K562	blood:
2	chr10:90750277..90752970-chr3:42621806..42623827,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTA2-1	chr10:90751178-90752732	SAF
2	lnc-ACTA2-1	chr10:90751181-90752732	NR_028371
3	lnc-ACTA2-1	chr10:90751179-90752732	NONHSAT015489

No data

Variant related genes	Relation type
ACTA2	TF binding region
ENSG00000093183	Chromatin interaction
ENSG00000008324	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10788624	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10887876	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10887877	0.81[ASN][1000 genomes]
rs11202917	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11202922	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12359362	0.81[ASN][1000 genomes]
rs12775501	0.81[ASN][1000 genomes]
rs1324551	0.81[ASN][1000 genomes]
rs1926195	0.80[ASN][1000 genomes]
rs1926196	0.81[ASN][1000 genomes]
rs2234767	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3740286	0.81[ASN][1000 genomes]
rs3824729	0.81[ASN][1000 genomes]
rs3824730	0.81[ASN][1000 genomes]
rs4934433	0.86[ASN][1000 genomes]
rs6586160	0.81[ASN][1000 genomes]
rs6586161	0.86[ASN][1000 genomes]
rs6586163	0.81[ASN][1000 genomes]
rs6586164	0.81[ASN][1000 genomes]
rs6586165	0.80[ASN][1000 genomes]
rs7069061	0.80[ASN][1000 genomes]
rs7072828	0.80[ASN][1000 genomes]
rs7076197	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7097467	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7097572	0.81[ASN][1000 genomes]
rs7897395	0.80[ASN][1000 genomes]
rs9325603	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9658685	0.82[AMR][1000 genomes];0.99[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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90749400-90753400	Active TSS	Left Ventricle	heart
2	chr10:90749400-90754200	Active TSS	Ovary	ovary
3	chr10:90749600-90752600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:90749600-90753600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:90749600-90753600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:90749600-90754200	Active TSS	Right Atrium	heart
7	chr10:90749600-90754400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr10:90749600-90755000	Active TSS	GM12878-XiMat	blood
9	chr10:90749800-90752400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:90749800-90752400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr10:90749800-90752400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr10:90749800-90753000	Active TSS	Brain Hippocampus Middle	brain
13	chr10:90749800-90753200	Active TSS	HSMMtube	muscle
14	chr10:90749800-90753600	Active TSS	NHDF-Ad	bronchial
15	chr10:90749800-90753800	Active TSS	NHLF	lung
16	chr10:90750000-90752800	Active TSS	Brain Cingulate Gyrus	brain
17	chr10:90750200-90752400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:90750200-90752400	Active TSS	Muscle Satellite Cultured Cells	--
19	chr10:90750200-90752600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr10:90750200-90753200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:90750200-90753200	Active TSS	HSMM	muscle
22	chr10:90750200-90753400	Active TSS	Psoas Muscle	Psoas
23	chr10:90750200-90753600	Active TSS	HMEC	breast
24	chr10:90750400-90752600	Active TSS	Primary T cells fromperipheralblood	blood
25	chr10:90750400-90753000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:90750400-90753800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr10:90751200-90752800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:90751200-90753200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:90751200-90754000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr10:90751400-90752400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:90751600-90752400	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr10:90751600-90752800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr10:90751600-90752800	Flanking Active TSS	Liver	Liver
34	chr10:90751600-90753000	Flanking Active TSS	Fetal Lung	lung
35	chr10:90751600-90754200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr10:90751800-90752400	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr10:90751800-90752800	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr10:90751800-90753400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr10:90751800-90754000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:90751800-90754200	Flanking Active TSS	Osteobl	bone
41	chr10:90751800-90755200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:90751800-90768200	Weak transcription	Spleen	Spleen
43	chr10:90752000-90752400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:90752000-90752400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr10:90752000-90752400	Flanking Active TSS	HepG2	liver
46	chr10:90752000-90752600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr10:90752000-90752800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr10:90752000-90752800	Active TSS	Thymus	Thymus
49	chr10:90752000-90753200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:90752000-90753400	Active TSS	Fetal Thymus	thymus

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