Variant report

Variant	rs6512949
Chromosome Location	chr20:52847948-52847949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1293129	0.84[EUR][1000 genomes]
rs1293131	0.84[EUR][1000 genomes]
rs17312067	0.93[EUR][1000 genomes]
rs56894192	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58311082	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59112455	0.81[EUR][1000 genomes]
rs59763311	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59783244	0.80[EUR][1000 genomes]
rs6097873	0.90[EUR][1000 genomes]
rs6097877	0.97[EUR][1000 genomes]
rs6127151	0.90[EUR][1000 genomes]
rs73914309	0.93[EUR][1000 genomes]
rs73914345	0.84[EUR][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:8 , 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	chr20:52847400-52848000	Enhancers	HSMMtube	muscle
5	chr20:52847400-52848200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:52847400-52848200	Enhancers	HSMM	muscle
7	chr20:52847400-52848400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	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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