Variant report

Variant	rs30405
Chromosome Location	chr16:79621818-79621819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs30406	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs30407	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs30408	0.82[ASN][1000 genomes]
rs30411	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs40965	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	nsv457554	chr16:79608408-79645989	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv573289	chr16:79608408-79645989	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv827768	chr16:79615278-79640094	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79606600-79623000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr16:79614600-79622400	Weak transcription	Psoas Muscle	Psoas
3	chr16:79614600-79623000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:79614600-79623200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr16:79615400-79623200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:79615800-79627200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:79620200-79623800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:79620400-79623000	Weak transcription	Ovary	ovary
9	chr16:79620600-79623000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr16:79621000-79622000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:79621400-79622000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr16:79621400-79622200	Enhancers	Fetal Lung	lung
13	chr16:79621600-79622000	Weak transcription	Gastric	stomach
14	chr16:79621600-79622400	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr16:79621600-79622400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr16:79621600-79623200	Enhancers	Liver	Liver
17	chr16:79621800-79622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:79621800-79622000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr16:79621800-79622200	Enhancers	Right Ventricle	heart

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

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