Variant report

Variant	rs4578972
Chromosome Location	chr3:23308301-23308302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1994953	0.84[AMR][1000 genomes]
rs2101811	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2132144	0.84[AMR][1000 genomes]
rs2359754	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4858489	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4858490	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4858495	0.84[AMR][1000 genomes]
rs4858499	0.80[AMR][1000 genomes]
rs5023615	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6790327	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7621680	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7653868	0.86[AMR][1000 genomes]
rs9815299	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9840808	0.84[AMR][1000 genomes]
rs9841336	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9848389	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9863465	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9875910	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014701	chr3:23257658-23416094	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv589947	chr3:23277838-23403943	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv589948	chr3:23287141-23390221	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23295200-23321800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:23298800-23311000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr3:23298800-23336600	Weak transcription	Thymus	Thymus
4	chr3:23299000-23314200	Weak transcription	Primary T cells from cord blood	blood
5	chr3:23302400-23312800	Weak transcription	Lung	lung
6	chr3:23302400-23321000	Weak transcription	Pancreas	Pancrea
7	chr3:23304800-23310800	Weak transcription	Fetal Lung	lung
8	chr3:23305200-23311000	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:23305600-23318400	Weak transcription	Brain Substantia Nigra	brain
10	chr3:23306600-23311600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:23306800-23312800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:23306800-23314200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:23307000-23311000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr3:23307200-23313200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:23307200-23313400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:23307200-23314400	Weak transcription	HSMMtube	muscle
17	chr3:23307200-23316000	Weak transcription	Primary B cells from cord blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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