Variant report

Variant	rs73979420
Chromosome Location	chr2:172473448-172473449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10208808	1.00[AMR][1000 genomes]
rs56195778	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56315615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979405	1.00[AMR][1000 genomes]
rs73979406	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979415	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979427	0.98[AFR][1000 genomes];1.00[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	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv997638	chr2:172442205-172560406	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172469000-172482600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:172470800-172473600	Enhancers	NHDF-Ad	bronchial
3	chr2:172470800-172474600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:172471200-172475200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:172472600-172474600	Weak transcription	HSMM	muscle
6	chr2:172473200-172477400	Weak transcription	HSMMtube	muscle

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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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