Variant report

Variant	rs61917800
Chromosome Location	chr12:67490936-67490937
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	STAT3	chr12:67490138-67491480	MCF10A-Er-Src	breast:	n/a	chr12:67490805-67490816
2	MAFF	chr12:67490722-67490952	K562	blood:	n/a	n/a
3	CEBPB	chr12:67490655-67491044	MCF-7	breast:	n/a	chr12:67490976-67490989
4	BACH1	chr12:67490689-67490982	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOS	chr12:67490653-67491143	MCF10A-Er-Src	breast:	n/a	chr12:67490840-67490850 chr12:67490840-67490850 chr12:67490841-67490849 chr12:67490839-67490851 chr12:67490840-67490850
6	MXI1	chr12:67490902-67491037	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr12:67490609-67491058	MCF-7	breast:	n/a	chr12:67490976-67490989
8	MYC	chr12:67490606-67491186	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr12:67490613-67491402	U87	brain:	n/a	n/a
10	FOS	chr12:67490153-67491520	MCF10A-Er-Src	breast:	n/a	chr12:67490840-67490850 chr12:67490840-67490850 chr12:67490841-67490849 chr12:67490839-67490851 chr12:67490840-67490850
11	FOS	chr12:67490547-67491027	Hela-S3	cervix:	n/a	chr12:67490840-67490850 chr12:67490840-67490850 chr12:67490841-67490849 chr12:67490839-67490851 chr12:67490840-67490850
12	POLR2A	chr12:67490805-67491060	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr12:67490194-67491431	U87	brain:	n/a	n/a
14	STAT3	chr12:67490561-67491105	MCF10A-Er-Src	breast:	n/a	chr12:67490805-67490816
15	FOS	chr12:67490430-67491395	MCF10A-Er-Src	breast:	n/a	chr12:67490840-67490850 chr12:67490840-67490850 chr12:67490841-67490849 chr12:67490839-67490851 chr12:67490840-67490850
16	MYC	chr12:67490394-67491246	MCF10A-Er-Src	breast:	n/a	n/a
17	CEBPB	chr12:67490653-67491492	Hela-S3	cervix:	n/a	chr12:67490976-67490989
18	E2F4	chr12:67490725-67491021	MCF10A-Er-Src	breast:	n/a	n/a
19	EP300	chr12:67490735-67491007	Hela-S3	cervix:	n/a	n/a
20	STAT3	chr12:67490421-67491150	MCF10A-Er-Src	breast:	n/a	chr12:67490805-67490816
21	STAT3	chr12:67490377-67491169	MCF10A-Er-Src	breast:	n/a	chr12:67490805-67490816
22	POLR2A	chr12:67490188-67491437	U87	brain:	n/a	n/a
23	POLR2A	chr12:67490613-67491485	U87	brain:	n/a	n/a
24	CEBPB	chr12:67490806-67491066	HepG2	liver:	n/a	chr12:67490976-67490989
25	NR2F2	chr12:67490658-67491176	MCF-7	breast:	n/a	n/a
26	FOS	chr12:67490329-67491209	MCF10A-Er-Src	breast:	n/a	chr12:67490840-67490850 chr12:67490840-67490850 chr12:67490841-67490849 chr12:67490839-67490851 chr12:67490840-67490850
27	CEBPB	chr12:67490663-67491009	K562	blood:	n/a	chr12:67490976-67490989

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67461965..67464455-chr12:67489883..67491932,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257083	TF binding region
ENSG00000256248	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12315969	0.85[EUR][1000 genomes]
rs12367764	0.85[EUR][1000 genomes]
rs12372307	0.85[EUR][1000 genomes]
rs1465024	0.85[EUR][1000 genomes]
rs1465025	0.85[EUR][1000 genomes]
rs1526841	0.85[EUR][1000 genomes]
rs1581599	0.92[EUR][1000 genomes]
rs1918141	0.92[EUR][1000 genomes]
rs2177937	0.85[EUR][1000 genomes]
rs4913526	0.85[EUR][1000 genomes]
rs4913527	0.92[EUR][1000 genomes]
rs61917786	0.81[EUR][1000 genomes]
rs61917787	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61917788	1.00[EUR][1000 genomes]
rs61917789	1.00[EUR][1000 genomes]
rs61917790	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917794	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917796	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917797	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917798	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917799	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917801	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917804	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917826	0.92[EUR][1000 genomes]
rs61917835	0.85[EUR][1000 genomes]
rs6581741	0.85[EUR][1000 genomes]
rs6581742	0.85[EUR][1000 genomes]
rs6581743	0.85[EUR][1000 genomes]
rs7305006	0.85[EUR][1000 genomes]
rs7965693	0.85[EUR][1000 genomes]
rs7966396	0.85[EUR][1000 genomes]
rs941097	0.85[EUR][1000 genomes]
rs941098	0.85[EUR][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	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv899217	chr12:67472631-67501987	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67489400-67491800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67489800-67491600	Enhancers	HMEC	breast
3	chr12:67489800-67491600	Enhancers	NHEK	skin
4	chr12:67490200-67491200	Enhancers	NHDF-Ad	bronchial
5	chr12:67490200-67491400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:67490200-67491600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:67490400-67491000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:67490400-67491000	Enhancers	Right Atrium	heart
9	chr12:67490400-67491200	Enhancers	Placenta	Placenta
10	chr12:67490600-67491200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:67490600-67491400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:67490600-67491400	Enhancers	Adipose Nuclei	Adipose
13	chr12:67490800-67491200	Enhancers	A549	lung
14	chr12:67490800-67491400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:67490800-67491400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:67490800-67491400	Enhancers	Hela-S3	cervix
17	chr12:67490800-67491600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:67490800-67491600	Enhancers	NH-A	brain

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