Variant report

Variant	rs8048628
Chromosome Location	chr16:79977978-79977979
allele	A/C
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:15)

rs_ID	r²[population]
rs16951680	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951719	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951724	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17782006	1.00[ASN][1000 genomes]
rs4421996	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4423433	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59235092	0.95[EUR][1000 genomes]
rs60396183	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60483676	1.00[ASN][1000 genomes]
rs74038056	1.00[ASN][1000 genomes]
rs74040137	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74040138	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74040147	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8062047	1.00[ASN][1000 genomes]
rs9929751	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1061519	chr16:79976222-79987278	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv2760424	chr16:79977619-79981715	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79977000-79978200	Enhancers	Fetal Heart	heart
2	chr16:79977400-79978000	Enhancers	HSMMtube	muscle
3	chr16:79977400-79978200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:79977400-79978200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:79977400-79978200	Enhancers	HMEC	breast
6	chr16:79977600-79978000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:79977600-79978000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:79977600-79978000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:79977600-79978200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:79977600-79978200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr16:79977600-79978200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr16:79977600-79978200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr16:79977600-79978200	Enhancers	Right Atrium	heart
14	chr16:79977600-79978400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:79977600-79978400	Enhancers	NHEK	skin
16	chr16:79977600-79978600	Enhancers	Osteobl	bone
17	chr16:79977800-79978200	Enhancers	HSMM	muscle
18	chr16:79977800-79978600	Enhancers	NH-A	brain

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links