Variant report

Variant	rs310008
Chromosome Location	chr16:81473649-81473650
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12443828	0.91[CHB][hapmap]
rs17197603	1.00[CHB][hapmap]
rs2317238	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2925998	0.92[CHB][hapmap]
rs2927336	1.00[CHB][hapmap]
rs2927337	1.00[CHB][hapmap]
rs310007	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs310010	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60193157	0.85[EUR][1000 genomes]
rs62043925	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62043926	0.85[EUR][1000 genomes]
rs7193107	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9923364	0.91[CHB][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Menarche (age at onset)	23667675	GWAS catalog

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81471800-81477000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr16:81472000-81476000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr16:81472200-81474400	Weak transcription	A549	lung
4	chr16:81472200-81476200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr16:81472200-81476600	Weak transcription	Fetal Thymus	thymus
6	chr16:81472400-81474600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:81472400-81477000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr16:81472800-81475200	Enhancers	Ovary	ovary
9	chr16:81472800-81476000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr16:81473000-81475800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:81473000-81477000	Weak transcription	Dnd41	blood
12	chr16:81473200-81474000	Enhancers	Rectal Smooth Muscle	rectum
13	chr16:81473400-81474200	Enhancers	Fetal Lung	lung
14	chr16:81473600-81473800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:81473600-81474000	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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