Variant report

Variant	rs16919814
Chromosome Location	chr8:52296364-52296365
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10090381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10094022	0.93[AFR][1000 genomes]
rs10104237	0.81[AFR][1000 genomes]
rs12676784	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12679432	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1431631	0.82[ASN][1000 genomes]
rs16916150	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916151	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839269	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52294600-52296800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:52295400-52296600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:52295400-52297000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:52295600-52296600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:52295600-52296800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:52295800-52296600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:52295800-52297000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:52296000-52296600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:52296000-52296800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:52296200-52296400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:52296200-52296600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:52296200-52301600	Weak transcription	H1 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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