Variant report

Variant	rs73126488
Chromosome Location	chr4:16120121-16120122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10516300	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11933542	0.91[ASN][1000 genomes]
rs16868298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893057	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2120236	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56922149	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs73126494	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73128416	0.83[AMR][1000 genomes]
rs894638	1.00[ASN][1000 genomes]
rs9985640	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16115200-16122800	Enhancers	Fetal Muscle Leg	muscle
2	chr4:16118000-16122200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:16118200-16121400	Enhancers	Fetal Heart	heart
4	chr4:16118400-16121000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:16118400-16122000	Weak transcription	Right Atrium	heart
6	chr4:16118400-16125000	Weak transcription	Right Ventricle	heart
7	chr4:16118600-16120600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr4:16118600-16124400	Weak transcription	Pancreas	Pancrea
9	chr4:16119000-16120600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr4:16119200-16120200	Weak transcription	Psoas Muscle	Psoas
11	chr4:16119200-16120400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:16119200-16121200	Weak transcription	HepG2	liver
13	chr4:16119200-16125200	Weak transcription	Left Ventricle	heart
14	chr4:16120000-16120400	Enhancers	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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