Variant report

Variant	rs2474513
Chromosome Location	chr14:40185001-40185002
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10129508	0.85[AFR][1000 genomes]
rs10137748	0.81[AMR][1000 genomes]
rs10137830	0.81[AMR][1000 genomes]
rs10138327	0.81[AMR][1000 genomes]
rs10150092	0.81[AMR][1000 genomes]
rs11623929	0.81[AMR][1000 genomes]
rs12890145	0.89[AFR][1000 genomes]
rs2224233	0.89[AFR][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	nsv832775	chr14:40038735-40193559	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1046932	chr14:40132136-40268085	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1047288	chr14:40143177-40275545	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40183200-40191400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:40184600-40185400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr14:40184800-40185200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:40185000-40185200	Enhancers	hESC Derived CD56+ Mesoderm 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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