Variant report

Variant	rs4975954
Chromosome Location	chr5:46400296-46400297
allele	C/T
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:10)

rs_ID	r²[population]
rs10043876	0.86[AMR][1000 genomes]
rs10064160	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10071996	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10941827	0.88[AFR][1000 genomes]
rs11744550	0.83[AFR][1000 genomes]
rs12521357	0.83[AFR][1000 genomes]
rs13178754	0.84[AFR][1000 genomes]
rs8185006	0.81[AFR][1000 genomes]
rs8185247	0.81[AMR][1000 genomes]
rs8185248	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv19788	chr5:46271528-46405359	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	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	chr5:46391400-46404600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr5:46391600-46405400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:46391600-46405600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr5:46397400-46401000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr5:46399200-46400600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:46399800-46400600	ZNF genes & repeats	Liver	Liver
7	chr5:46400000-46400400	ZNF genes & repeats	HUVEC	blood vessel
8	chr5:46400200-46400600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte 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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