Variant report

Variant	rs16891204
Chromosome Location	chr8:119575940-119575941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10101026	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891213	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16891236	1.00[CHB][hapmap]
rs17683196	1.00[CHB][hapmap]
rs2515034	1.00[YRI][hapmap]
rs55791185	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56006234	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57416344	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62531916	0.83[ASN][1000 genomes]
rs62531923	0.83[ASN][1000 genomes]
rs7015718	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678157	0.94[EUR][1000 genomes]
rs72678158	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678163	0.81[AMR][1000 genomes];1.00[EUR][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	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
2	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
3	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
4	nsv6362	chr8:119554736-119599269	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16891204	Hs.453941	cis	multi-tissue	Pritchard

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119568400-119576000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:119568600-119579600	Weak transcription	Fetal Lung	lung
3	chr8:119571600-119583200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:119574000-119579400	Weak transcription	Thymus	Thymus
5	chr8:119574400-119579800	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:119574600-119576200	Flanking Active TSS	GM12878-XiMat	blood
7	chr8:119574800-119577000	Enhancers	Brain Substantia Nigra	brain
8	chr8:119575000-119576000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:119575200-119576400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:119575200-119577400	Enhancers	Brain Hippocampus Middle	brain
11	chr8:119575400-119576600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:119575600-119577000	Enhancers	Brain Angular Gyrus	brain
13	chr8:119575600-119577400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr8:119575800-119576000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:119575800-119576000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:119575800-119576200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr8:119575800-119583200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:119575800-119584400	Weak transcription	hESC Derived CD56+ Ectoderm 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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