Variant report

Variant	rs16935713
Chromosome Location	chr8:49211589-49211590
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10090055	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10093331	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10111777	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10111784	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10429331	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11781996	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13261537	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16935801	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56379242	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58478977	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59662112	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7017698	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72635679	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72635680	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72635681	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72635683	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72635685	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72635687	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72635692	0.97[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	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1018242	chr8:49190915-49243694	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv539600	chr8:49190915-49243694	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr8:49197000-49212200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:49200800-49213800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:49204000-49215200	Weak transcription	NHDF-Ad	bronchial
4	chr8:49205800-49211600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:49210200-49211800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:49210200-49211800	Enhancers	Fetal Muscle Leg	muscle
7	chr8:49210800-49216200	Weak transcription	Esophagus	oesophagus
8	chr8:49210800-49216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:49210800-49217200	Weak transcription	NHLF	lung
10	chr8:49211000-49213200	Enhancers	Fetal Lung	lung
11	chr8:49211400-49212200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:49211400-49215200	Weak transcription	Adipose Derived Mesenchymal Stem Cell 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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