Variant report

Variant	rs518159
Chromosome Location	chr12:40384492-40384493
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1086487	1.00[AFR][1000 genomes]
rs2624245	1.00[AFR][1000 genomes]
rs2624247	1.00[AFR][1000 genomes]
rs2624248	1.00[AFR][1000 genomes]
rs2708413	1.00[AFR][1000 genomes]
rs2708434	1.00[AFR][1000 genomes]
rs2708448	1.00[AFR][1000 genomes]
rs2708452	1.00[AFR][1000 genomes]
rs2708459	1.00[AFR][1000 genomes]
rs476592	1.00[AFR][1000 genomes]
rs478527	1.00[AFR][1000 genomes]
rs489044	1.00[AFR][1000 genomes]
rs511097	1.00[AFR][1000 genomes]
rs522895	1.00[AFR][1000 genomes]
rs525931	1.00[AFR][1000 genomes]
rs530071	1.00[AFR][1000 genomes]
rs545434	1.00[AFR][1000 genomes]
rs546083	1.00[AFR][1000 genomes]
rs578572	1.00[AFR][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	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40364400-40391400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:40366400-40390200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:40380800-40393400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:40383200-40385800	Weak transcription	Fetal Brain Male	brain
5	chr12:40384200-40384600	Enhancers	Liver	Liver
6	chr12:40384200-40384600	Enhancers	Brain Angular Gyrus	brain
7	chr12:40384200-40384800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr12:40384400-40384600	Enhancers	Lung	lung
9	chr12:40384400-40391800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:40384400-40405200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:40384400-40405400	Weak transcription	Pancreas	Pancrea

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