Variant report

Variant	rs258738
Chromosome Location	chr5:115131792-115131793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10434761	0.83[ASN][1000 genomes]
rs12189155	0.93[ASN][1000 genomes]
rs12520248	0.83[ASN][1000 genomes]
rs12521324	0.90[ASN][1000 genomes]
rs13174348	0.90[ASN][1000 genomes]
rs154757	0.88[ASN][1000 genomes]
rs154759	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs26531	0.85[ASN][1000 genomes]
rs34850	0.92[ASN][1000 genomes]
rs34851	0.83[ASN][1000 genomes]
rs34852	0.83[ASN][1000 genomes]
rs34869	0.81[ASN][1000 genomes]
rs35053218	0.88[ASN][1000 genomes]
rs40095	0.83[ASN][1000 genomes]
rs4920892	0.96[ASN][1000 genomes]
rs6872406	0.82[ASN][1000 genomes]
rs71581214	0.95[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	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3383479	chr5:115129353-115131951	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115130400-115138400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:115131400-115132600	Enhancers	Liver	Liver
3	chr5:115131400-115135400	Enhancers	HepG2	liver
4	chr5:115131400-115137800	Weak transcription	Fetal Brain Female	brain
5	chr5:115131400-115149200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:115131600-115132200	Enhancers	Placenta	Placenta
7	chr5:115131600-115134600	Enhancers	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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