Variant report

Variant	rs227819
Chromosome Location	chr6:44676420-44676421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12529132	0.85[ASN][1000 genomes]
rs227803	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs227808	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs227817	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs227818	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4714811	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55643629	0.81[EUR][1000 genomes]
rs67850674	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6901297	0.83[EUR][1000 genomes]
rs6935492	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9296445	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9463008	0.80[EUR][1000 genomes]
rs9463009	0.80[EUR][1000 genomes]
rs9472322	0.81[EUR][1000 genomes]
rs9472324	0.80[EUR][1000 genomes]
rs9472325	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817071	chr6:44670110-44698829	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 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	chr6:44667200-44691000	Weak transcription	Right Atrium	heart
2	chr6:44670400-44679200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:44670400-44679600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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

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