Variant report

Variant	rs58554745
Chromosome Location	chr5:118224652-118224653
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs59300139	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59960294	0.93[AFR][1000 genomes]
rs60664847	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60694838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61466105	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73234487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236929	1.00[EUR][1000 genomes]
rs73236933	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236935	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236937	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236981	0.95[AFR][1000 genomes]
rs73239013	0.96[AFR][1000 genomes]
rs73239060	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73239063	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73239075	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs865396	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv882771	chr5:118170135-118230640	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv882772	chr5:118173127-118230640	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv882773	chr5:118175640-118241854	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv599563	chr5:118191798-118241854	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118216600-118244800	Weak transcription	Primary T cells from cord blood	blood
2	chr5:118218800-118240600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:118219200-118227200	Weak transcription	Brain Anterior Caudate	brain
4	chr5:118219400-118227200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:118220000-118226800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:118223200-118227000	Weak transcription	Ovary	ovary
7	chr5:118223400-118225600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:118224000-118225000	Strong transcription	hESC Derived CD184+ Endoderm 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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