Variant report

Variant	rs338850
Chromosome Location	chr5:111865036-111865037
allele	C/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:19)

rs_ID	r²[population]
rs11740414	0.81[EUR][1000 genomes]
rs11748780	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1422541	0.81[EUR][1000 genomes]
rs1445934	0.80[EUR][1000 genomes]
rs1445935	0.80[EUR][1000 genomes]
rs163456	0.86[EUR][1000 genomes]
rs338842	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs338843	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs338854	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs338863	0.84[EUR][1000 genomes]
rs338864	0.84[EUR][1000 genomes]
rs338867	0.83[EUR][1000 genomes]
rs338869	0.82[EUR][1000 genomes]
rs341289	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs341290	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs401722	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs430143	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs437318	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs445130	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][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	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	nsv882715	chr5:111836278-111894491	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv882716	chr5:111848890-111894491	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111861200-111868200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:111861600-111868000	Weak transcription	GM12878-XiMat	blood
3	chr5:111861600-111868200	Weak transcription	Primary B cells from cord blood	blood
4	chr5:111862400-111868400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:111863400-111865400	Enhancers	Adipose Nuclei	Adipose
6	chr5:111863400-111865600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:111863400-111866200	Genic enhancers	Primary B cells from peripheral blood	blood
8	chr5:111864000-111865200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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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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