Variant report

Variant	rs7076197
Chromosome Location	chr10:90753134-90753135
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	chr10:90752994-90753386	GM12891	blood:	n/a	n/a
2	EBF1	chr10:90753119-90753213	GM12878	blood:	n/a	n/a
3	FOS	chr10:90752956-90753156	MCF10A-Er-Src	breast:	n/a	n/a
4	BHLHE40	chr10:90752939-90753199	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:90752453-90754259	GM18505	blood:	n/a	n/a
6	POLR2A	chr10:90753024-90753371	GM12891	blood:	n/a	n/a
7	MAFK	chr10:90752906-90753227	HepG2	liver:	n/a	n/a
8	MYC	chr10:90752475-90753360	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr10:90749504-90754868	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr10:90752954-90753153	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr10:90753040-90753204	H1-hESC	embryonic stem cell:	n/a	n/a
12	RELA	chr10:90752964-90753359	GM12891	blood:	n/a	chr10:90753123-90753132 chr10:90753123-90753132
13	MAFK	chr10:90752900-90753266	IMR90	lung:	n/a	n/a
14	POLR2A	chr10:90752372-90754279	GM12878	blood:	n/a	n/a
15	ZNF384	chr10:90752800-90753275	GM12878	blood:	n/a	n/a
16	ELK1	chr10:90753073-90753309	GM12878	blood:	n/a	n/a
17	POLR2A	chr10:90752974-90753266	GM12891	blood:	n/a	n/a
18	BCLAF1	chr10:90752509-90753326	GM12878	blood:	n/a	chr10:90752781-90752789
19	E2F4	chr10:90752977-90753437	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr10:90752522-90754223	GM12891	blood:	n/a	n/a
21	POLR2A	chr10:90752939-90754470	GM12878	blood:	n/a	n/a
22	RELA	chr10:90752536-90753364	GM12878	blood:	n/a	chr10:90753123-90753132 chr10:90753123-90753132
23	POLR2A	chr10:90752999-90753427	GM12892	blood:	n/a	n/a
24	RELA	chr10:90752891-90753343	GM19099	blood:	n/a	chr10:90753123-90753132 chr10:90753123-90753132
25	FOS	chr10:90752985-90753276	MCF10A-Er-Src	breast:	n/a	n/a
26	WRNIP1	chr10:90752640-90753392	GM12878	blood:	n/a	n/a
27	MYC	chr10:90753004-90753358	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr10:90749814-90754387	GM12878	blood:	n/a	n/a
29	POLR2A	chr10:90752533-90754479	GM12892	blood:	n/a	n/a
30	POLR2A	chr10:90752978-90753456	GM12892	blood:	n/a	n/a
31	POLR2A	chr10:90752442-90753400	GM12892	blood:	n/a	n/a
32	MAFK	chr10:90752904-90753230	HepG2	liver:	n/a	n/a
33	TBP	chr10:90752480-90754300	GM12878	blood:	n/a	n/a
34	MAFF	chr10:90752943-90753208	HepG2	liver:	n/a	n/a
35	CHD1	chr10:90749926-90754225	GM12878	blood:	n/a	n/a
36	POLR2A	chr10:90749275-90754183	GM19099	blood:	n/a	n/a
37	MAFK	chr10:90752906-90753249	H1-hESC	embryonic stem cell:	n/a	n/a
38	NFYB	chr10:90752891-90753265	GM12878	blood:	n/a	n/a
39	FOS	chr10:90752976-90753235	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr10:90749276-90758032	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr10:90752436-90753474	GM12878	blood:	n/a	n/a
42	STAT3	chr10:90753039-90753278	MCF10A-Er-Src	breast:	n/a	n/a
43	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: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10788624	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10887876	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10887877	0.81[ASN][1000 genomes]
rs11202917	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11202922	0.89[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[ASN][1000 genomes]
rs1926195	0.80[ASN][1000 genomes]
rs1926196	0.81[ASN][1000 genomes]
rs2234767	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3740286	0.81[ASN][1000 genomes]
rs3781204	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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]
rs7097467	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7097572	0.81[ASN][1000 genomes]
rs7897395	0.80[ASN][1000 genomes]
rs9325603	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9658685	0.86[AMR][1000 genomes];1.00[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: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	chr10:90749800-90753200	Active TSS	HSMMtube	muscle
9	chr10:90749800-90753600	Active TSS	NHDF-Ad	bronchial
10	chr10:90749800-90753800	Active TSS	NHLF	lung
11	chr10:90750200-90753200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:90750200-90753200	Active TSS	HSMM	muscle
13	chr10:90750200-90753400	Active TSS	Psoas Muscle	Psoas
14	chr10:90750200-90753600	Active TSS	HMEC	breast
15	chr10:90750400-90753800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr10:90751200-90753200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:90751200-90754000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:90751600-90754200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr10:90751800-90753400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr10:90751800-90754000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:90751800-90754200	Flanking Active TSS	Osteobl	bone
22	chr10:90751800-90755200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:90751800-90768200	Weak transcription	Spleen	Spleen
24	chr10:90752000-90753200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:90752000-90753400	Active TSS	Fetal Thymus	thymus
26	chr10:90752000-90753600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr10:90752000-90754000	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr10:90752000-90754200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:90752000-90754200	Active TSS	Stomach Smooth Muscle	stomach
30	chr10:90752000-90754800	Weak transcription	Stomach Mucosa	stomach
31	chr10:90752000-90755200	Weak transcription	Gastric	stomach
32	chr10:90752000-90755200	Weak transcription	Lung	lung
33	chr10:90752000-90755200	Weak transcription	Pancreas	Pancrea
34	chr10:90752000-90761600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr10:90752000-90770000	Weak transcription	Placenta	Placenta
36	chr10:90752000-90770800	Weak transcription	Esophagus	oesophagus
37	chr10:90752200-90753200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:90752200-90753200	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr10:90752200-90753200	Active TSS	Adipose Nuclei	Adipose
40	chr10:90752200-90753200	Active TSS	NH-A	brain
41	chr10:90752200-90754000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:90752200-90754000	Active TSS	Colonic Mucosa	Colon
43	chr10:90752200-90754000	Active TSS	Rectal Smooth Muscle	rectum
44	chr10:90752200-90754000	Enhancers	A549	lung
45	chr10:90752200-90754000	Enhancers	Dnd41	blood
46	chr10:90752200-90754000	Flanking Active TSS	NHEK	skin
47	chr10:90752200-90754200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr10:90752200-90754400	Enhancers	Primary B cells from peripheral blood	blood
49	chr10:90752200-90755200	Weak transcription	Right Ventricle	heart
50	chr10:90752200-90755800	Weak transcription	Fetal Intestine Large	intestine

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