Variant report

Variant	rs2533042
Chromosome Location	chr14:72321728-72321729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2533041	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2533043	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2533045	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2533046	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2533047	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2533048	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2533049	0.89[ASN][1000 genomes]
rs2533050	0.86[ASN][1000 genomes]
rs2533052	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2533054	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2533060	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs887404	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs887405	0.86[AMR][1000 genomes];0.98[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	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv565044	chr14:72317961-72336142	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72316600-72322600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:72319600-72322800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:72319600-72322800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:72319600-72323000	Weak transcription	Fetal Heart	heart
5	chr14:72321000-72323000	Weak transcription	Spleen	Spleen

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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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