Variant report

Variant	rs9325603
Chromosome Location	chr10:90754155-90754156
allele	C/G
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	RELA	chr10:90753772-90754272	GM10847	blood:	n/a	chr10:90754049-90754058 chr10:90754049-90754058
2	POLR2A	chr10:90753582-90754157	GM12892	blood:	n/a	n/a
3	RELA	chr10:90753697-90754277	GM12892	blood:	n/a	chr10:90754049-90754058 chr10:90754049-90754058
4	RELA	chr10:90753740-90754267	GM19193	blood:	n/a	chr10:90754049-90754058 chr10:90754049-90754058
5	RUNX3	chr10:90753695-90754278	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:90752453-90754259	GM18505	blood:	n/a	n/a
7	BCLAF1	chr10:90753563-90754179	GM12878	blood:	n/a	n/a
8	STAT1	chr10:90753783-90754170	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:90753664-90754156	GM12878	blood:	n/a	n/a
10	EP300	chr10:90753710-90754251	GM12878	blood:	n/a	n/a
11	FOXM1	chr10:90753591-90754335	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:90749504-90754868	MCF10A-Er-Src	breast:	n/a	n/a
13	ATF2	chr10:90753631-90754307	GM12878	blood:	n/a	n/a
14	PML	chr10:90753467-90754276	GM12878	blood:	n/a	n/a
15	BCL11A	chr10:90753938-90754161	GM12878	blood:	n/a	n/a
16	MTA3	chr10:90753571-90754298	GM12878	blood:	n/a	n/a
17	POLR2A	chr10:90752372-90754279	GM12878	blood:	n/a	n/a
18	RELA	chr10:90753773-90754242	GM15510	blood:	n/a	chr10:90754049-90754058 chr10:90754049-90754058
19	RELA	chr10:90753727-90754264	GM12891	blood:	n/a	chr10:90754049-90754058 chr10:90754049-90754058
20	FOS	chr10:90753792-90754166	MCF10A-Er-Src	breast:	n/a	chr10:90753882-90753891 chr10:90753885-90753897
21	RELA	chr10:90753694-90754352	GM18951	blood:	n/a	chr10:90754049-90754058 chr10:90754049-90754058
22	BCLAF1	chr10:90753596-90754174	GM12878	blood:	n/a	n/a
23	POLR2A	chr10:90752522-90754223	GM12891	blood:	n/a	n/a
24	POLR2A	chr10:90752939-90754470	GM12878	blood:	n/a	n/a
25	NFIC	chr10:90753669-90754444	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	MYC	chr10:90753883-90754343	MCF10A-Er-Src	breast:	n/a	n/a
31	EBF1	chr10:90753691-90754227	GM12878	blood:	n/a	n/a
32	MYC	chr10:90753781-90754290	MCF10A-Er-Src	breast:	n/a	n/a
33	TBP	chr10:90752480-90754300	GM12878	blood:	n/a	n/a
34	CHD1	chr10:90749926-90754225	GM12878	blood:	n/a	n/a
35	MTA3	chr10:90753650-90754168	GM12878	blood:	n/a	n/a
36	BCL11A	chr10:90753844-90754219	GM12878	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	POLR2A	chr10:90749276-90758032	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr10:90753610-90754163	GM12891	blood:	n/a	n/a
41	RELA	chr10:90753664-90754262	GM18505	blood:	n/a	chr10:90754049-90754058 chr10:90754049-90754058
42	POLR2A	chr10:90753643-90754173	GM18951	blood:	n/a	n/a
43	NFATC1	chr10:90753533-90754160	GM12878	blood:	n/a	n/a
44	RELA	chr10:90753729-90754279	GM19099	blood:	n/a	chr10:90754049-90754058 chr10:90754049-90754058
45	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: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10788624	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10887876	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11202917	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11202922	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1159120	0.83[ASN][1000 genomes]
rs1468063	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs2147418	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2234767	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781204	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4934433	0.83[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs6586160	0.84[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs6586161	0.83[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7076197	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7097467	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7920305	0.83[ASN][1000 genomes]
rs9658685	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9658767	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs9658769	1.00[CEU][hapmap];0.95[JPT][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9325603	ACTA2	cis	multi-tissue	Pritchard

Chromatin state (count:96 , 50 per page) page: 1 2

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	chr10:90751600-90754200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr10:90751800-90754200	Flanking Active TSS	Osteobl	bone
7	chr10:90751800-90755200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:90751800-90768200	Weak transcription	Spleen	Spleen
9	chr10:90752000-90754200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:90752000-90754200	Active TSS	Stomach Smooth Muscle	stomach
11	chr10:90752000-90754800	Weak transcription	Stomach Mucosa	stomach
12	chr10:90752000-90755200	Weak transcription	Gastric	stomach
13	chr10:90752000-90755200	Weak transcription	Lung	lung
14	chr10:90752000-90755200	Weak transcription	Pancreas	Pancrea
15	chr10:90752000-90761600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:90752000-90770000	Weak transcription	Placenta	Placenta
17	chr10:90752000-90770800	Weak transcription	Esophagus	oesophagus
18	chr10:90752200-90754200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr10:90752200-90754400	Enhancers	Primary B cells from peripheral blood	blood
20	chr10:90752200-90755200	Weak transcription	Right Ventricle	heart
21	chr10:90752200-90755800	Weak transcription	Fetal Intestine Large	intestine
22	chr10:90752200-90757200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr10:90752200-90760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr10:90752200-90768400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr10:90752400-90754200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:90752400-90754200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr10:90752400-90754200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:90752400-90754400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:90752800-90754200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:90752800-90754200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:90752800-90754200	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr10:90752800-90754400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr10:90752800-90754400	Enhancers	Liver	Liver
34	chr10:90752800-90755000	Weak transcription	Thymus	Thymus
35	chr10:90752800-90773400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr10:90753000-90754800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr10:90753000-90755000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr10:90753000-90758600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr10:90753000-90761400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr10:90753400-90754200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr10:90753400-90754200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr10:90753400-90754200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr10:90753400-90754200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr10:90753400-90754200	Enhancers	Hela-S3	cervix
45	chr10:90753400-90754200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr10:90753400-90755000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr10:90753400-90755000	Weak transcription	Fetal Thymus	thymus
48	chr10:90753400-90755200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr10:90753400-90755200	Weak transcription	Left Ventricle	heart
50	chr10:90753400-90755200	Weak transcription	Psoas Muscle	Psoas

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