Variant report

Variant	rs1819244
Chromosome Location	chr13:48428124-48428125
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11841343	0.94[EUR][1000 genomes]
rs12871654	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1408617	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1467625	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1966196	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1966197	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2897436	0.80[EUR][1000 genomes]
rs3990993	0.80[EUR][1000 genomes]
rs7336029	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7336197	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7993336	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs879458	0.81[EUR][1000 genomes]
rs9526402	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9526404	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9562770	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9567933	0.83[AMR][1000 genomes]
rs9595803	0.94[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	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr13:48424400-48431200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:48424800-48428800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:48427400-48432200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr13:48428000-48432200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:48428000-48432200	Weak transcription	NHDF-Ad	bronchial
6	chr13:48428000-48432400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:48428000-48432600	Weak transcription	HMEC	breast
8	chr13:48428000-48432600	Weak transcription	HSMM	muscle

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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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