Variant report

Variant	rs7097467
Chromosome Location	chr10:90753244-90753245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:90752994-90753386	GM12891	blood:	n/a	n/a
2	POLR2A	chr10:90752453-90754259	GM18505	blood:	n/a	n/a
3	POLR2A	chr10:90753024-90753371	GM12891	blood:	n/a	n/a
4	MYC	chr10:90752475-90753360	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr10:90749504-90754868	MCF10A-Er-Src	breast:	n/a	n/a
6	RELA	chr10:90752964-90753359	GM12891	blood:	n/a	chr10:90753123-90753132 chr10:90753123-90753132
7	MAFK	chr10:90752900-90753266	IMR90	lung:	n/a	n/a
8	POLR2A	chr10:90752372-90754279	GM12878	blood:	n/a	n/a
9	ZNF384	chr10:90752800-90753275	GM12878	blood:	n/a	n/a
10	ELK1	chr10:90753073-90753309	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:90752974-90753266	GM12891	blood:	n/a	n/a
12	BCLAF1	chr10:90752509-90753326	GM12878	blood:	n/a	chr10:90752781-90752789
13	E2F4	chr10:90752977-90753437	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr10:90752522-90754223	GM12891	blood:	n/a	n/a
15	POLR2A	chr10:90752939-90754470	GM12878	blood:	n/a	n/a
16	RELA	chr10:90752536-90753364	GM12878	blood:	n/a	chr10:90753123-90753132 chr10:90753123-90753132
17	POLR2A	chr10:90752999-90753427	GM12892	blood:	n/a	n/a
18	RELA	chr10:90752891-90753343	GM19099	blood:	n/a	chr10:90753123-90753132 chr10:90753123-90753132
19	FOS	chr10:90752985-90753276	MCF10A-Er-Src	breast:	n/a	n/a
20	WRNIP1	chr10:90752640-90753392	GM12878	blood:	n/a	n/a
21	MYC	chr10:90753004-90753358	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr10:90749814-90754387	GM12878	blood:	n/a	n/a
23	POLR2A	chr10:90752533-90754479	GM12892	blood:	n/a	n/a
24	POLR2A	chr10:90752978-90753456	GM12892	blood:	n/a	n/a
25	POLR2A	chr10:90752442-90753400	GM12892	blood:	n/a	n/a
26	TBP	chr10:90752480-90754300	GM12878	blood:	n/a	n/a
27	CHD1	chr10:90749926-90754225	GM12878	blood:	n/a	n/a
28	POLR2A	chr10:90749275-90754183	GM19099	blood:	n/a	n/a
29	MAFK	chr10:90752906-90753249	H1-hESC	embryonic stem cell:	n/a	n/a
30	NFYB	chr10:90752891-90753265	GM12878	blood:	n/a	n/a
31	STAT1	chr10:90753161-90753261	GM12878	blood:	n/a	n/a
32	POLR2A	chr10:90749276-90758032	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr10:90752436-90753474	GM12878	blood:	n/a	n/a
34	STAT3	chr10:90753039-90753278	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr10:90752619-90754171	GM12892	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:90753195-90753245	PANC-1	pancreas:	n/a
2	chr10:90753195-90753245	PFSK-1	brain:	n/a
3	chr10:90753195-90753245	MCF10A-Er-Src	breast:	n/a
4	chr10:90753195-90753245	K562	blood:	n/a
5	chr10:90753195-90753245	RPTEC	kidney:	n/a
6	chr10:90753195-90753245	U87	brain:	n/a
7	chr10:90753195-90753245	GM12892	blood:	n/a
8	chr10:90753195-90753245	A549	lung:	n/a
9	chr10:90753195-90753245	GM06990	blood:	n/a
10	chr10:90753195-90753245	HNPCEpiC	eye:	n/a
11	chr10:90753195-90753245	AG04450	lung:	fetal
12	chr10:90753195-90753245	SAEC	small airway:	n/a
13	chr10:90753195-90753245	ProgFib	skin:	n/a
14	chr10:90753195-90753245	GM12878	blood:	n/a
15	chr10:90753195-90753245	HepG2	liver:	n/a
16	chr10:90753195-90753245	CMK	blood:	n/a
17	chr10:90753195-90753245	MCF-7	breast:	n/a
18	chr10:90753195-90753245	H1-hESC	embryonic stem cell:	embryo
19	chr10:90753195-90753245	ovcar-3	ovarian:	n/a
20	chr10:90753195-90753245	HCF	heart:	n/a
21	chr10:90753195-90753245	AG10803	skin:	n/a
22	chr10:90753195-90753245	SK-N-SH	brain:	n/a
23	chr10:90753195-90753245	HRE	kidney:	n/a
24	chr10:90753195-90753245	IMR90	lung:	fetal
25	chr10:90753195-90753245	HUVEC	blood vessel:	n/a
26	chr10:90753195-90753245	GM12891	blood:	n/a
27	chr10:90753195-90753245	AG09309	skin:	n/a
28	chr10:90753195-90753245	NT2-D1	testis:	n/a
29	chr10:90753195-90753245	SK-N-SH_RA	brain:	n/a
30	chr10:90753195-90753245	HL-60	blood:	n/a
31	chr10:90753195-90753245	HEK293	kidney:	embryo
32	chr10:90753195-90753245	NH-A	brain:	n/a
33	chr10:90753195-90753245	GM19239	blood:	n/a
34	chr10:90753195-90753245	PrEC	prostate:	n/a
35	chr10:90753195-90753245	Hepatocyte	liver:	n/a
36	chr10:90753195-90753245	HCM	heart:	n/a
37	chr10:90753195-90753245	NHBE	bronchial:	n/a
38	chr10:90753195-90753245	HRPEpiC	eye:	n/a
39	chr10:90753195-90753245	HPAEpiC	pulmonary alveolar:	n/a
40	chr10:90753195-90753245	Caco-2	colon:	n/a
41	chr10:90753195-90753245	HRCEpiC	kidney:	n/a
42	chr10:90753195-90753245	SKMC	muscle:	n/a
43	chr10:90753195-90753245	ECC-1	luminal epithelium:	n/a
44	chr10:90753195-90753245	AG04449	skin:	fetal
45	chr10:90753195-90753245	HCPEpiC	choroid plexus:	n/a
46	chr10:90753195-90753245	SK-N-MC	brain:	n/a
47	chr10:90753195-90753245	Jurkat	blood:	n/a
48	chr10:90753195-90753245	Hela-S3	cervix:	n/a
49	chr10:90753195-90753245	LNCaP	prostate:	n/a
50	chr10:90753195-90753245	HCT-116	colon:	n/a

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

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

No data

Variant related genes	Relation type
ACTA2	TF binding region
ACTA2	CpG island

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10788624	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10887876	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10887877	0.81[ASN][1000 genomes]
rs11202917	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11202922	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12359362	0.81[ASN][1000 genomes]
rs12775501	0.81[ASN][1000 genomes]
rs1324551	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs1468063	1.00[CEU][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.93[MEX][hapmap]
rs1800682	0.81[CHB][hapmap]
rs1926195	0.84[CHB][hapmap];0.80[ASN][1000 genomes]
rs1926196	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs2234767	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3740286	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs3781204	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824729	0.81[ASN][1000 genomes]
rs3824730	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs4934433	0.90[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs4934434	0.85[CHB][hapmap]
rs6586160	0.85[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs6586161	0.90[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs6586163	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs6586164	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs6586165	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs6586167	0.81[CHB][hapmap]
rs7069061	0.80[ASN][1000 genomes]
rs7072828	0.80[ASN][1000 genomes]
rs7076197	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7097572	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs7897395	0.80[ASN][1000 genomes]
rs9325603	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]
rs9658685	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9658767	1.00[CEU][hapmap];0.95[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7097467	ACTA2	cis	lymphoblastoid	seeQTL
rs7097467	SLC16A12	cis	parietal	SCAN
rs7097467	FAS	cis	parietal	SCAN
rs7097467	FAS	cis	cerebellum	SCAN
rs7097467	ANKRD1	cis	cerebellum	SCAN

Chromatin state (count:105 , 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	chr10:90749600-90753600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:90749600-90753600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:90749600-90754200	Active TSS	Right Atrium	heart
6	chr10:90749600-90754400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr10:90749600-90755000	Active TSS	GM12878-XiMat	blood
8	chr10:90749800-90753600	Active TSS	NHDF-Ad	bronchial
9	chr10:90749800-90753800	Active TSS	NHLF	lung
10	chr10:90750200-90753400	Active TSS	Psoas Muscle	Psoas
11	chr10:90750200-90753600	Active TSS	HMEC	breast
12	chr10:90750400-90753800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:90751200-90754000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:90751600-90754200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr10:90751800-90753400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr10:90751800-90754000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:90751800-90754200	Flanking Active TSS	Osteobl	bone
18	chr10:90751800-90755200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:90751800-90768200	Weak transcription	Spleen	Spleen
20	chr10:90752000-90753400	Active TSS	Fetal Thymus	thymus
21	chr10:90752000-90753600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr10:90752000-90754000	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr10:90752000-90754200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:90752000-90754200	Active TSS	Stomach Smooth Muscle	stomach
25	chr10:90752000-90754800	Weak transcription	Stomach Mucosa	stomach
26	chr10:90752000-90755200	Weak transcription	Gastric	stomach
27	chr10:90752000-90755200	Weak transcription	Lung	lung
28	chr10:90752000-90755200	Weak transcription	Pancreas	Pancrea
29	chr10:90752000-90761600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr10:90752000-90770000	Weak transcription	Placenta	Placenta
31	chr10:90752000-90770800	Weak transcription	Esophagus	oesophagus
32	chr10:90752200-90754000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:90752200-90754000	Active TSS	Colonic Mucosa	Colon
34	chr10:90752200-90754000	Active TSS	Rectal Smooth Muscle	rectum
35	chr10:90752200-90754000	Enhancers	A549	lung
36	chr10:90752200-90754000	Enhancers	Dnd41	blood
37	chr10:90752200-90754000	Flanking Active TSS	NHEK	skin
38	chr10:90752200-90754200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr10:90752200-90754400	Enhancers	Primary B cells from peripheral blood	blood
40	chr10:90752200-90755200	Weak transcription	Right Ventricle	heart
41	chr10:90752200-90755800	Weak transcription	Fetal Intestine Large	intestine
42	chr10:90752200-90757200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr10:90752200-90760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr10:90752200-90768400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr10:90752400-90753400	Enhancers	Primary hematopoietic stem cells	blood
46	chr10:90752400-90753400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr10:90752400-90753400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr10:90752400-90753400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr10:90752400-90754000	Enhancers	Primary T cells from cord blood	blood
50	chr10:90752400-90754000	Flanking Active TSS	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links