Variant report

Variant	rs12592687
Chromosome Location	chr15:40040889-40040890
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	STAT3	chr15:40040517-40040897	MCF10A-Er-Src	breast:	n/a	n/a
2	NR2F2	chr15:40040520-40040895	MCF-7	breast:	n/a	n/a
3	NR2F2	chr15:40040467-40040937	MCF-7	breast:	n/a	n/a
4	CEBPB	chr15:40040393-40040981	A549	lung:	n/a	n/a
5	REST	chr15:40040454-40040914	A549	lung:	n/a	n/a
6	FOXA2	chr15:40040532-40040932	A549	lung:	n/a	n/a
7	TCF12	chr15:40040222-40040983	A549	lung:	n/a	n/a
8	NR3C1	chr15:40040416-40040907	A549	lung:	n/a	n/a
9	SP1	chr15:40040365-40040946	A549	lung:	n/a	n/a
10	CEBPB	chr15:40040550-40040916	MCF-7	breast:	n/a	n/a
11	SP1	chr15:40040385-40040969	A549	lung:	n/a	n/a
12	BCL3	chr15:40040414-40040925	A549	lung:	n/a	n/a
13	CEBPB	chr15:40040483-40040904	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
FSIP1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1021410	0.80[EUR][1000 genomes]
rs1021411	0.80[EUR][1000 genomes]
rs1166718	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1166722	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1166723	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1565559	0.80[EUR][1000 genomes]
rs1688087	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1906163	0.84[EUR][1000 genomes]
rs2576929	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2576932	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2576933	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2631714	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2638009	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34943556	0.86[ASN][1000 genomes]
rs4115216	0.96[ASN][1000 genomes]
rs4924385	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4924389	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4924391	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs592172	0.90[ASN][1000 genomes]
rs594863	0.81[ASN][1000 genomes]
rs606927	0.90[ASN][1000 genomes]
rs62004808	0.81[EUR][1000 genomes]
rs620407	0.81[ASN][1000 genomes]
rs6492914	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6492915	0.87[ASN][1000 genomes]
rs6492919	0.89[ASN][1000 genomes]
rs66496275	0.86[ASN][1000 genomes]
rs670748	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7179417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7179742	0.80[EUR][1000 genomes]
rs8031241	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8033485	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8033957	0.89[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	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40035600-40050000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:40037800-40041400	Enhancers	Hela-S3	cervix
3	chr15:40038400-40041200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:40038400-40041200	Enhancers	Osteobl	bone
5	chr15:40038600-40041200	Enhancers	NHDF-Ad	bronchial
6	chr15:40039200-40041000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr15:40039400-40049000	Weak transcription	HUVEC	blood vessel
8	chr15:40039800-40041000	Enhancers	Rectal Smooth Muscle	rectum
9	chr15:40040200-40041000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr15:40040200-40041000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:40040400-40041000	Enhancers	Adipose Nuclei	Adipose
12	chr15:40040800-40041000	Flanking Active TSS	A549	lung
13	chr15:40040800-40044800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:40040800-40063400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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