Variant report

Variant	rs72948483
Chromosome Location	chr1:84986869-84986870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1395418	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17365681	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17365723	1.00[EUR][1000 genomes]
rs17374048	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17374753	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17540101	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs312403	1.00[EUR][1000 genomes]
rs41284589	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41284591	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41284599	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41293029	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41302796	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4512665	1.00[EUR][1000 genomes]
rs4907081	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72946368	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72946369	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs72946390	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs72948408	0.96[EUR][1000 genomes]
rs72948421	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84973000-85003200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:84973200-85003200	Weak transcription	Adipose Nuclei	Adipose
3	chr1:84973400-84991600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:84973400-84993800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:84973400-84994400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:84973400-84995200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:84973400-85002000	Weak transcription	Primary T cells from cord blood	blood
8	chr1:84974200-84991400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:84975200-85019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:84975800-85030200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:84977600-84991600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:84979600-84994400	Weak transcription	Primary B cells from cord blood	blood
13	chr1:84981600-85012200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:84982400-85026800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:84985000-84994800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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