Variant report

Variant	rs73311726
Chromosome Location	chr8:119420273-119420274
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:15)

rs_ID	r²[population]
rs16891015	1.00[AMR][1000 genomes]
rs16891018	1.00[AMR][1000 genomes]
rs28365507	1.00[AMR][1000 genomes]
rs56066957	1.00[AMR][1000 genomes]
rs56118719	1.00[AMR][1000 genomes]
rs56758435	1.00[AMR][1000 genomes]
rs60577654	1.00[AMR][1000 genomes]
rs60660635	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60842367	1.00[AMR][1000 genomes]
rs73313473	1.00[AMR][1000 genomes]
rs73327506	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327547	1.00[AMR][1000 genomes]
rs73708329	1.00[AMR][1000 genomes]
rs73708490	1.00[AMR][1000 genomes]
rs73708495	1.00[AMR][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	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv516067	chr8:119420259-119421020	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119398800-119422000	Weak transcription	GM12878-XiMat	blood
2	chr8:119413600-119431400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:119419400-119420600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr8:119419800-119420800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:119419800-119420800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:119420000-119420400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:119420000-119420600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr8:119420000-119420600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr8:119420000-119420600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:119420000-119420600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:119420200-119420600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:119420200-119420600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:119420200-119420600	Enhancers	HUES64 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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