Variant report

Variant	rs10492818
Chromosome Location	chr16:72316884-72316885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11859361	0.82[AFR][1000 genomes]
rs11860402	0.82[AFR][1000 genomes]
rs16970754	0.85[AMR][1000 genomes]
rs16970775	0.85[AMR][1000 genomes]
rs28387686	0.85[AMR][1000 genomes]
rs28522627	0.85[AMR][1000 genomes]
rs73582956	0.85[AMR][1000 genomes]
rs8051509	0.85[AMR][1000 genomes]
rs8060309	0.85[AMR][1000 genomes]
rs9934766	1.00[MEX][hapmap]
rs9941341	0.86[AFR][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	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1059599	chr16:72219769-72342170	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1066473	chr16:72229094-72373598	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv906897	chr16:72283147-72326375	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72296600-72317400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:72297800-72318000	Weak transcription	Thymus	Thymus
3	chr16:72302600-72332000	Weak transcription	Primary B cells from cord blood	blood
4	chr16:72306600-72317800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:72307600-72317400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr16:72313000-72318200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:72313400-72317600	Weak transcription	HepG2	liver
8	chr16:72313400-72323000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:72314000-72317000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:72315000-72317000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:72315600-72318200	Weak transcription	HMEC	breast
12	chr16:72315600-72353600	Weak transcription	Dnd41	blood
13	chr16:72315800-72320600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:72316000-72319600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr16:72316000-72323400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:72316600-72334800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:72316800-72317000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:72316800-72317000	Enhancers	Fetal Lung	lung

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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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