Variant report

Variant	rs12049163
Chromosome Location	chr1:47877212-47877213
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	RFX5	chr1:47877019-47877625	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47874710..47877626-chr1:47877641..47879603,2	MCF-7	breast:
2	chr1:47872841..47874697-chr1:47876449..47879170,2	K562	blood:
3	chr1:47873301..47878358-chr1:47879948..47882876,5	K562	blood:

Variant related genes	Relation type
ENSG00000225762	TF binding region
FOXE3	TF binding region
ENSG00000225762	Chromatin interaction
ENSG00000186790	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11211529	1.00[EUR][1000 genomes]
rs11211536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12021515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12026379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12030146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12032801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12049416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1680019	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17103177	1.00[EUR][1000 genomes]
rs17103179	1.00[EUR][1000 genomes]
rs17103196	1.00[EUR][1000 genomes]
rs1765156	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1813427	1.00[EUR][1000 genomes]
rs2253511	1.00[EUR][1000 genomes]
rs2506984	1.00[EUR][1000 genomes]
rs2622906	1.00[EUR][1000 genomes]
rs2622911	1.00[EUR][1000 genomes]
rs3738317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4926868	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs495482	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs506329	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs522768	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs527430	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs557101	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60042036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs642750	1.00[EUR][1000 genomes]
rs6683513	0.87[EUR][1000 genomes]
rs6688278	0.87[EUR][1000 genomes]
rs66904716	1.00[EUR][1000 genomes]
rs6703935	1.00[EUR][1000 genomes]
rs693036	1.00[EUR][1000 genomes]
rs72480616	1.00[EUR][1000 genomes]
rs72553947	1.00[EUR][1000 genomes]
rs72553949	1.00[EUR][1000 genomes]
rs72637985	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871961	chr1:47875627-47912628	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47872400-47877800	Enhancers	Osteobl	bone
2	chr1:47872800-47877800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:47873400-47877800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:47873800-47879200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:47874400-47878400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:47874600-47877400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:47875000-47877800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:47875400-47877800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:47875400-47877800	Enhancers	HMEC	breast
10	chr1:47875600-47877600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:47875600-47877800	Enhancers	HSMMtube	muscle
12	chr1:47875600-47878000	Enhancers	HSMM	muscle
13	chr1:47875600-47878200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:47875800-47877400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:47876000-47877400	Weak transcription	NH-A	brain
16	chr1:47876800-47877600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:47876800-47877600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:47877200-47877400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
19	chr1:47877200-47877400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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