Variant report

Variant	rs6668666
Chromosome Location	chr1:220999411-220999412
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	CEBPB	chr1:220999133-220999587	A549	lung:	n/a	chr1:220999413-220999422 chr1:220999413-220999422 chr1:220999413-220999422 chr1:220999412-220999423 chr1:220999413-220999422
2	STAT3	chr1:220999129-220999496	MCF10A-Er-Src	breast:	n/a	chr1:220999414-220999422 chr1:220999483-220999494
3	FOS	chr1:220999162-220999504	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr1:220999169-220999474	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr1:220999118-220999457	MCF10A-Er-Src	breast:	n/a	chr1:220999414-220999422
6	MYC	chr1:220999148-220999591	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr1:220999139-220999504	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr1:220999153-220999587	HepG2	liver:	n/a	chr1:220999413-220999422 chr1:220999413-220999422 chr1:220999413-220999422 chr1:220999412-220999423 chr1:220999413-220999422
9	STAT3	chr1:220999159-220999470	MCF10A-Er-Src	breast:	n/a	chr1:220999414-220999422
10	CEBPB	chr1:220999178-220999589	Hela-S3	cervix:	n/a	chr1:220999413-220999422 chr1:220999413-220999422 chr1:220999413-220999422 chr1:220999412-220999423 chr1:220999413-220999422
11	FOS	chr1:220999163-220999500	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr1:220999084-220999557	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr1:220999113-220999436	MCF10A-Er-Src	breast:	n/a	chr1:220999414-220999422
14	CEBPB	chr1:220999215-220999548	K562	blood:	n/a	chr1:220999413-220999422 chr1:220999413-220999422 chr1:220999413-220999422 chr1:220999412-220999423 chr1:220999413-220999422
15	CEBPB	chr1:220999104-220999567	IMR90	lung:	n/a	chr1:220999413-220999422 chr1:220999413-220999422 chr1:220999413-220999422 chr1:220999412-220999423 chr1:220999413-220999422
16	CEBPB	chr1:220999142-220999631	A549	lung:	n/a	chr1:220999413-220999422 chr1:220999413-220999422 chr1:220999413-220999422 chr1:220999412-220999423 chr1:220999413-220999422
17	CEBPB	chr1:220999260-220999543	MCF-7	breast:	n/a	chr1:220999413-220999422 chr1:220999413-220999422 chr1:220999413-220999422 chr1:220999412-220999423 chr1:220999413-220999422
18	E2F4	chr1:220999136-220999457	MCF10A-Er-Src	breast:	n/a	n/a
19	CEBPB	chr1:220999266-220999531	MCF-7	breast:	n/a	chr1:220999413-220999422 chr1:220999413-220999422 chr1:220999413-220999422 chr1:220999412-220999423 chr1:220999413-220999422

Variant related genes	Relation type
ENSG00000238078	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10495152	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10863567	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10863568	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11118609	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11118611	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11118615	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118616	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11118619	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11590678	0.84[ASN][1000 genomes]
rs12057411	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12073837	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12089958	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12117818	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12124030	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12129004	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12139139	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12145674	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1335919	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1494368	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1494371	0.80[EUR][1000 genomes]
rs1494372	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17008806	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17596850	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17650107	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279638	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2378425	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35730037	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4143773	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61830270	0.90[ASN][1000 genomes]
rs61830289	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6541161	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6673877	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6693017	0.89[ASN][1000 genomes]
rs7530074	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7530176	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7530493	0.98[ASN][1000 genomes]
rs7544735	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553447	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs881995	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs903319	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs984676	0.81[EUR][1000 genomes];0.96[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	esv1008867	chr1:220986965-220999703	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220973400-221000200	Weak transcription	Placenta	Placenta
2	chr1:220980400-221001400	Weak transcription	Gastric	stomach
3	chr1:220984000-220999800	Weak transcription	Colonic Mucosa	Colon
4	chr1:220984200-221001400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:220984600-220999600	Weak transcription	Left Ventricle	heart
6	chr1:220984600-221006600	Weak transcription	Psoas Muscle	Psoas
7	chr1:220987600-221003800	Weak transcription	HepG2	liver
8	chr1:220989800-221000800	Weak transcription	Fetal Intestine Large	intestine
9	chr1:220990000-221001200	Weak transcription	Hela-S3	cervix
10	chr1:220991600-221000800	Weak transcription	Fetal Intestine Small	intestine
11	chr1:220992000-221002600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:220992800-221001200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:220993200-221000800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:220993200-221001000	Weak transcription	Ovary	ovary
15	chr1:220993400-221001000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:220995000-221001000	Weak transcription	Right Atrium	heart
17	chr1:220995600-221005400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:220996000-221001400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:220997400-221003400	Enhancers	Liver	Liver
20	chr1:220998000-221000800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:220998000-221001600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:220998200-220999600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:220998200-220999800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:220998200-221000200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:220998200-221000800	Weak transcription	Spleen	Spleen
26	chr1:220998200-221001600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:220998200-221004200	Weak transcription	Aorta	Aorta
28	chr1:220999200-220999800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:220999200-220999800	Enhancers	HUVEC	blood vessel
30	chr1:220999200-221000000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:220999200-221000000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:220999200-221000000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:220999200-221000200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:220999200-221000200	Enhancers	Osteobl	bone
35	chr1:220999200-221000400	Enhancers	Colon Smooth Muscle	Colon
36	chr1:220999200-221002800	Enhancers	Fetal Lung	lung
37	chr1:220999200-221003600	Enhancers	Fetal Heart	heart
38	chr1:220999400-220999600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:220999400-220999800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:220999400-220999800	Weak transcription	Adipose Nuclei	Adipose
41	chr1:220999400-221000000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:220999400-221000000	Enhancers	NHLF	lung

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