Variant report

Variant	rs74074262
Chromosome Location	chr1:47876176-47876177
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	MXI1	chr1:47874469-47876385	IMR90	lung:	n/a	n/a

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

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2820985	1.00[AMR][1000 genomes]
rs57434065	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074048	1.00[AMR][1000 genomes]
rs74074255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9436431	1.00[AMR][1000 genomes]
rs9436435	1.00[AMR][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:26 , 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	chr1:47873000-47876600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:47873400-47877800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:47873600-47877200	Enhancers	Fetal Heart	heart
6	chr1:47873800-47879200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:47874000-47876200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:47874000-47876600	Enhancers	Fetal Lung	lung
9	chr1:47874400-47878400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:47874600-47876200	Bivalent Enhancer	Fetal Stomach	stomach
11	chr1:47874600-47877400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:47874800-47876200	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr1:47874800-47876200	Enhancers	Placenta	Placenta
14	chr1:47875000-47876200	Enhancers	Adipose Nuclei	Adipose
15	chr1:47875000-47876200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr1:47875000-47877800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:47875200-47876400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:47875400-47877800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:47875400-47877800	Enhancers	HMEC	breast
20	chr1:47875600-47877600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:47875600-47877800	Enhancers	HSMMtube	muscle
22	chr1:47875600-47878000	Enhancers	HSMM	muscle
23	chr1:47875600-47878200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:47875800-47877400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:47876000-47876200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:47876000-47877400	Weak transcription	NH-A	brain

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