Variant report

Variant	rs1812479
Chromosome Location	chr20:52848134-52848135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1477737	1.00[AMR][1000 genomes]
rs2169617	1.00[AMR][1000 genomes]
rs2426508	1.00[AMR][1000 genomes]
rs292115	1.00[AMR][1000 genomes]
rs292121	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs292124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs292127	1.00[AMR][1000 genomes]
rs292130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs292131	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs292133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs292134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs292136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs292137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs292138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs292147	1.00[AMR][1000 genomes]
rs406902	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs409262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6097908	1.00[AMR][1000 genomes]
rs73912631	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52840600-52849000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:52840800-52849000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr20:52841000-52851000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr20:52847400-52848200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr20:52847400-52848200	Enhancers	HSMM	muscle
6	chr20:52847400-52848400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr20:52847600-52848200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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