Variant report

Variant	rs55781186
Chromosome Location	chr8:120081573-120081574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11573939	1.00[ASN][1000 genomes]
rs11993915	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997898	1.00[ASN][1000 genomes]
rs16891963	1.00[ASN][1000 genomes]
rs1872425	1.00[ASN][1000 genomes]
rs6995289	0.85[AFR][1000 genomes]
rs7017788	1.00[ASN][1000 genomes]
rs72682416	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72682419	1.00[ASN][1000 genomes]
rs72682426	1.00[ASN][1000 genomes]
rs72682427	1.00[ASN][1000 genomes]
rs72682428	1.00[ASN][1000 genomes]
rs72682430	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682431	1.00[ASN][1000 genomes]
rs72682433	1.00[ASN][1000 genomes]
rs72682444	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3386171	chr8:120081021-120083019	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3338813	chr8:120081521-120082569	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120080000-120082400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:120080000-120082600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:120080600-120082000	Weak transcription	Hela-S3	cervix
4	chr8:120080600-120082200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:120080600-120083400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:120080600-120085200	Weak transcription	Fetal Stomach	stomach
7	chr8:120080800-120084200	Weak transcription	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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