Variant report

Variant	rs17121951
Chromosome Location	chr12:59441126-59441127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17122004	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17122012	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41341248	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60583762	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74091473	1.00[AMR][1000 genomes]
rs74091483	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74091488	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094531	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094541	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7961788	0.82[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	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59431000-59441800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:59439200-59441200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:59440000-59442000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:59440000-59442000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:59440000-59442000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:59440000-59442000	Enhancers	HMEC	breast
7	chr12:59440000-59442000	Enhancers	NHEK	skin
8	chr12:59440200-59441400	Enhancers	HUVEC	blood vessel
9	chr12:59440600-59441200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:59440600-59441200	Enhancers	Hela-S3	cervix
11	chr12:59440600-59441600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:59440800-59441200	Enhancers	Duodenum Mucosa	Duodenum
13	chr12:59440800-59442000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:59441000-59450800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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