Variant report

Variant	rs6488919
Chromosome Location	chr12:124598762-124598763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10846602	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10846605	1.00[AMR][1000 genomes]
rs1716422	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2451320	1.00[AMR][1000 genomes]
rs448623	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs530382	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs694119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs707337	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7957701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825487	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825488	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825491	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825492	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825493	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825494	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825495	1.00[AMR][1000 genomes]
rs825496	1.00[AMR][1000 genomes]
rs825502	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs825503	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs862221	0.91[AFR][1000 genomes];1.00[AMR][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	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv520633	chr12:124548394-124683205	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1799776	chr12:124594370-124614538	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124596000-124600400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:124596400-124601000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:124598400-124599400	Weak transcription	Fetal Kidney	kidney

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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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