Variant report

Variant	rs7308150
Chromosome Location	chr12:117646596-117646597
allele	C/T
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:4)

rs_ID	r²[population]
rs1105026	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56709211	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61152712	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73393695	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv510592	chr12:117618872-117684713	Bivalent/Poised TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	nsv560360	chr12:117641229-117650873	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv1846026	chr12:117641314-117650873	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv560374	chr12:117641786-117650873	Enhancers Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv560382	chr12:117641949-117650873	Enhancers Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117642200-117648000	Weak transcription	Right Atrium	heart
2	chr12:117645200-117655600	Weak transcription	NHEK	skin
3	chr12:117646000-117647400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:117646200-117646600	Enhancers	Brain Hippocampus Middle	brain
5	chr12:117646200-117650800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:117646200-117650800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:117646400-117664400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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