Variant report

Variant	rs71522545
Chromosome Location	chr8:130267090-130267091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12546163	1.00[AFR][1000 genomes]
rs13252273	1.00[EUR][1000 genomes]
rs13255648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34515997	1.00[AMR][1000 genomes]
rs35694469	1.00[AFR][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	nsv831460	chr8:130185680-130366217	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130254000-130282200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130261600-130268200	Weak transcription	K562	blood
3	chr8:130266000-130267200	Enhancers	Fetal Thymus	thymus
4	chr8:130266000-130267200	Enhancers	Thymus	Thymus
5	chr8:130266400-130267200	Flanking Active TSS	Dnd41	blood
6	chr8:130266400-130267400	Enhancers	HSMMtube	muscle
7	chr8:130266400-130267600	Enhancers	HSMM	muscle
8	chr8:130266400-130267800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:130266600-130267200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:130266800-130267600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:130267000-130267200	Enhancers	Fetal Kidney	kidney
12	chr8:130267000-130267600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:130267000-130268000	Enhancers	Fetal Heart	heart

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