Variant report

Variant	rs72730214
Chromosome Location	chr8:130155389-130155390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11777951	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11784062	0.80[EUR][1000 genomes]
rs11994022	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4418312	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4617118	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72730212	0.91[EUR][1000 genomes]
rs72730213	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72730215	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72730217	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72730218	0.89[AMR][1000 genomes];0.94[EUR][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	nsv891443	chr8:130016499-130220746	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891445	chr8:130152109-130224721	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	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	chr8:130126400-130160600	Weak transcription	Fetal Thymus	thymus
2	chr8:130146000-130158800	Genic enhancers	Dnd41	blood
3	chr8:130151400-130158000	Weak transcription	Thymus	Thymus
4	chr8:130154400-130155600	Enhancers	A549	lung

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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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