Variant report

Variant	rs250166
Chromosome Location	chr16:79596437-79596438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs173645	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs185133	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250158	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250165	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250170	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30405	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs30406	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs30407	0.84[ASN][1000 genomes]
rs30408	0.84[ASN][1000 genomes]
rs30411	0.84[ASN][1000 genomes]
rs30426	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs381823	1.00[ASN][1000 genomes]
rs396982	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs39846	0.86[EUR][1000 genomes]
rs398465	1.00[ASN][1000 genomes]
rs399239	1.00[ASN][1000 genomes]
rs40965	0.84[ASN][1000 genomes]
rs440271	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv2754467	chr16:79539799-79598399	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv833295	chr16:79568878-79726768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1060796	chr16:79590617-79609857	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1064997	chr16:79591279-79608618	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1056252	chr16:79591279-79608831	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1063641	chr16:79591279-79614168	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79594800-79597000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:79595000-79599000	Weak transcription	Adipose Nuclei	Adipose
3	chr16:79595800-79597000	Enhancers	Brain Substantia Nigra	brain
4	chr16:79595800-79597200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:79595800-79598200	Enhancers	Liver	Liver
6	chr16:79596000-79596800	Enhancers	Brain Hippocampus Middle	brain
7	chr16:79596000-79599000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:79596400-79597600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr16:79596400-79599000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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