Variant report

Variant	rs72757442
Chromosome Location	chr5:54067240-54067241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1867688	1.00[ASN][1000 genomes]
rs56020939	1.00[ASN][1000 genomes]
rs72757433	1.00[ASN][1000 genomes]
rs72757436	1.00[ASN][1000 genomes]
rs72762223	1.00[ASN][1000 genomes]
rs72762225	1.00[ASN][1000 genomes]
rs72762245	1.00[ASN][1000 genomes]
rs7714829	1.00[ASN][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	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr5:54060600-54070000	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:54061000-54070400	Weak transcription	NHLF	lung
3	chr5:54066800-54067400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:54067000-54067400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:54067000-54068400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:54067000-54071200	Enhancers	Primary B cells from peripheral blood	blood
7	chr5:54067200-54070000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:54067200-54071400	Enhancers	Primary B cells from cord blood	blood

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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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