Variant report

Variant	rs60818509
Chromosome Location	chr14:72641867-72641868
allele	A/G
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:6)

rs_ID	r²[population]
rs17108484	1.00[AMR][1000 genomes]
rs17108551	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108621	0.84[AFR][1000 genomes]
rs17108758	0.93[AFR][1000 genomes]
rs57962265	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58868301	0.86[AFR][1000 genomes];1.00[AMR][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	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
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1041492	chr14:72634606-72768970	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	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	chr14:72626200-72645800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:72638800-72646000	Weak transcription	Right Ventricle	heart
3	chr14:72639400-72642400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:72639800-72643400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:72640200-72646000	Weak transcription	Left Ventricle	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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