Variant report

Variant	rs4648250
Chromosome Location	chr1:186651296-186651297
allele	A/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	RFX5	chr1:186651005-186652278	Hela-S3	cervix:	n/a	n/a
2	MAX	chr1:186650990-186651351	Hela-S3	cervix:	n/a	n/a
3	STAT3	chr1:186650981-186651317	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:186648078-186651650	IMR90	lung:	n/a	n/a
5	CTCF	chr1:186648686-186651449	A549	lung:	n/a	chr1:186651134-186651142
6	BRCA1	chr1:186650113-186652019	Hela-S3	cervix:	n/a	chr1:186650261-186650268 chr1:186651446-186651453
7	MYC	chr1:186650959-186651312	MCF10A-Er-Src	breast:	n/a	n/a
8	TBP	chr1:186648845-186652253	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr1:186650968-186651298	IMR90	lung:	n/a	chr1:186651144-186651155 chr1:186651144-186651157
10	CEBPB	chr1:186650957-186651350	Hela-S3	cervix:	n/a	chr1:186651144-186651155 chr1:186651144-186651157
11	MAFK	chr1:186650924-186651429	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:186647207-186651362	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr1:186650995-186651335	A549	lung:	n/a	chr1:186651144-186651155 chr1:186651144-186651157
14	EP300	chr1:186650945-186651508	Hela-S3	cervix:	n/a	chr1:186651145-186651159

Variant related genes	Relation type
PTGS2	TF binding region

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10798049	0.81[ASN][1000 genomes]
rs10911883	0.81[ASN][1000 genomes]
rs10911884	0.81[ASN][1000 genomes]
rs10911885	0.81[ASN][1000 genomes]
rs10911886	0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs10911887	0.81[ASN][1000 genomes]
rs10911889	0.81[ASN][1000 genomes]
rs10911901	0.80[ASN][1000 genomes]
rs10911903	0.96[ASN][1000 genomes]
rs10911904	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10911905	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10911907	0.86[ASN][1000 genomes]
rs10911908	0.86[ASN][1000 genomes]
rs10911909	0.96[ASN][1000 genomes]
rs10911910	0.86[ASN][1000 genomes]
rs10911911	0.86[ASN][1000 genomes]
rs1119066	0.80[ASN][1000 genomes]
rs1119230	0.86[ASN][1000 genomes]
rs1119231	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11583191	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11584118	0.96[ASN][1000 genomes]
rs11585033	0.81[ASN][1000 genomes]
rs11585801	0.81[ASN][1000 genomes]
rs12057695	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12061722	0.81[ASN][1000 genomes]
rs12062679	0.81[ASN][1000 genomes]
rs12064238	0.80[ASN][1000 genomes]
rs12076624	0.80[ASN][1000 genomes]
rs12077211	0.81[ASN][1000 genomes]
rs12081510	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12084433	0.80[ASN][1000 genomes]
rs12085848	0.81[ASN][1000 genomes]
rs12089049	0.96[ASN][1000 genomes]
rs12089127	0.81[ASN][1000 genomes]
rs12097208	0.81[ASN][1000 genomes]
rs12401885	0.86[ASN][1000 genomes]
rs12402766	0.81[ASN][1000 genomes]
rs12402797	0.81[ASN][1000 genomes]
rs12403185	0.89[ASN][1000 genomes]
rs12404145	1.00[JPT][hapmap]
rs12405141	0.89[ASN][1000 genomes]
rs12405541	0.96[ASN][1000 genomes]
rs12405919	0.89[ASN][1000 genomes]
rs12408222	0.81[ASN][1000 genomes]
rs12408912	0.81[ASN][1000 genomes]
rs12409744	0.80[ASN][1000 genomes]
rs12410549	0.81[ASN][1000 genomes]
rs1569879	0.81[ASN][1000 genomes]
rs17520924	0.81[ASN][1000 genomes]
rs1997977	0.81[ASN][1000 genomes]
rs2038225	0.81[ASN][1000 genomes]
rs20417	0.82[CHB][hapmap];0.89[ASN][1000 genomes]
rs20428	0.90[AMR][1000 genomes]
rs20432	0.80[ASN][1000 genomes]
rs2066826	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2143416	0.82[CHB][hapmap];1.00[CHD][hapmap];0.80[ASN][1000 genomes]
rs2143417	0.82[CHB][hapmap];1.00[CHD][hapmap];0.80[ASN][1000 genomes]
rs2179555	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2383511	0.81[ASN][1000 genomes]
rs2383515	0.80[ASN][1000 genomes]
rs2383516	0.96[ASN][1000 genomes]
rs2383529	0.80[ASN][1000 genomes]
rs28469836	0.81[ASN][1000 genomes]
rs2891247	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs34975495	0.81[ASN][1000 genomes]
rs4422959	0.80[ASN][1000 genomes]
rs4648276	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4648306	0.96[ASN][1000 genomes]
rs4648308	0.80[ASN][1000 genomes]
rs59665821	0.81[ASN][1000 genomes]
rs60203808	0.89[ASN][1000 genomes]
rs61532952	0.96[ASN][1000 genomes]
rs6425033	0.81[ASN][1000 genomes]
rs66494422	0.96[ASN][1000 genomes]
rs6665419	0.86[ASN][1000 genomes]
rs6666199	0.86[ASN][1000 genomes]
rs66850891	0.81[ASN][1000 genomes]
rs6685280	0.80[ASN][1000 genomes]
rs6690318	0.81[ASN][1000 genomes]
rs6698048	0.80[ASN][1000 genomes]
rs67143595	0.81[ASN][1000 genomes]
rs67203540	0.81[ASN][1000 genomes]
rs67362011	0.81[ASN][1000 genomes]
rs67607835	0.81[ASN][1000 genomes]
rs67804662	0.96[ASN][1000 genomes]
rs68096880	0.96[ASN][1000 genomes]
rs689465	0.86[ASN][1000 genomes]
rs72721517	0.81[ASN][1000 genomes]
rs72721521	0.81[ASN][1000 genomes]
rs72721544	0.81[ASN][1000 genomes]
rs72721568	0.86[ASN][1000 genomes]
rs73052465	0.81[ASN][1000 genomes]
rs7512750	0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7522862	0.81[ASN][1000 genomes]
rs7533973	0.89[ASN][1000 genomes]
rs7538407	0.81[ASN][1000 genomes]
rs7542810	0.81[ASN][1000 genomes]
rs7545438	0.81[ASN][1000 genomes]
rs7548600	0.81[ASN][1000 genomes]
rs964571	0.96[ASN][1000 genomes]
rs9659276	0.81[ASN][1000 genomes]
rs9783017	0.96[ASN][1000 genomes]
rs9783052	0.80[ASN][1000 genomes]
rs9804178	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv470750	chr1:186642429-186700959	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv548403	chr1:186642429-186700959	Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186647000-186652000	Active TSS	Stomach Smooth Muscle	stomach
2	chr1:186647800-186651800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:186648000-186651600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr1:186648000-186651800	Active TSS	Colon Smooth Muscle	Colon
5	chr1:186648000-186651800	Active TSS	NHDF-Ad	bronchial
6	chr1:186648400-186652000	Active TSS	Right Atrium	heart
7	chr1:186648600-186651400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:186648600-186651400	Active TSS	NHLF	lung
9	chr1:186648600-186651600	Active TSS	HMEC	breast
10	chr1:186648600-186651800	Active TSS	Rectal Smooth Muscle	rectum
11	chr1:186648600-186652000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:186648600-186652000	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr1:186648600-186652400	Active TSS	NHEK	skin
14	chr1:186649200-186652400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:186650200-186652200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:186650400-186651600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr1:186650400-186652000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:186650600-186651600	Weak transcription	Adipose Nuclei	Adipose
19	chr1:186650600-186651800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:186650600-186652000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:186650600-186652200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:186650800-186651600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:186650800-186652000	Flanking Active TSS	HUVEC	blood vessel
24	chr1:186650800-186652000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr1:186651000-186651400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr1:186651000-186651400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:186651000-186651400	Weak transcription	Fetal Lung	lung
28	chr1:186651000-186652000	Flanking Active TSS	Osteobl	bone
29	chr1:186651000-186652600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:186651000-186653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:186651200-186651400	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr1:186651200-186651400	Active TSS	A549	lung
33	chr1:186651200-186651400	Flanking Active TSS	Hela-S3	cervix
34	chr1:186651200-186652000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:186651200-186652800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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