Variant report

Variant	rs6582496
Chromosome Location	chr12:44405125-44405126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10880618	0.96[EUR][1000 genomes]
rs1098878	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11182382	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322164	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1688723	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1701083	0.98[EUR][1000 genomes]
rs842193	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs842194	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs842195	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs842202	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs859699	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs863580	0.87[AMR][1000 genomes];1.00[EUR][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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
2	chr12:44402000-44432200	Weak transcription	Aorta	Aorta
3	chr12:44402800-44414600	Weak transcription	HSMMtube	muscle
4	chr12:44403600-44415600	Weak transcription	Fetal Intestine Large	intestine
5	chr12:44403800-44405200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:44403800-44409400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:44404000-44422600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:44404200-44414600	Weak transcription	Fetal Intestine Small	intestine
9	chr12:44404200-44422800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:44404400-44416400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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