Variant report

Variant	rs7448454
Chromosome Location	chr5:111934201-111934202
allele	A/C
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:7)

rs_ID	r²[population]
rs10072039	1.00[AMR][1000 genomes]
rs6421844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6421846	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6594606	1.00[AMR][1000 genomes]
rs6594621	1.00[AMR][1000 genomes]
rs6594626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7380750	0.93[AFR][1000 genomes];1.00[AMR][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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv20349	chr5:111915807-111944317	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111930200-111935400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:111930800-111940000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:111931400-111940000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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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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