Variant report

Variant	rs6048691
Chromosome Location	chr20:23279181-23279182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6036368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6048689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6048692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7270895	0.81[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	nsv458948	chr20:23234699-23292849	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv585721	chr20:23234699-23292849	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23275600-23285200	Weak transcription	Spleen	Spleen
2	chr20:23275800-23281800	Weak transcription	Right Atrium	heart
3	chr20:23277000-23279200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr20:23277000-23280400	Enhancers	NHDF-Ad	bronchial
5	chr20:23277200-23279400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr20:23277200-23280000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:23277800-23279800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:23278000-23279200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr20:23278000-23279400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr20:23278200-23279200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr20:23278400-23279400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr20:23278400-23279400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr20:23279000-23279400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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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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