Variant report

Variant	rs12939436
Chromosome Location	chr17:67229514-67229515
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:11)

rs_ID	r²[population]
rs11655507	0.81[AFR][1000 genomes]
rs1860121	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs471193	0.82[AMR][1000 genomes]
rs531586	0.81[AMR][1000 genomes]
rs6501291	0.94[ASN][1000 genomes]
rs6501292	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6501313	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7222780	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs817121	0.82[AMR][1000 genomes]
rs817128	0.82[AMR][1000 genomes]
rs9302893	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv516799	chr17:67210267-67231581	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
4	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67144000-67236000	Weak transcription	Psoas Muscle	Psoas
2	chr17:67173400-67230000	Weak transcription	Pancreas	Pancrea
3	chr17:67207600-67247800	Weak transcription	Left Ventricle	heart
4	chr17:67213800-67230400	Weak transcription	Brain Angular Gyrus	brain
5	chr17:67215600-67239200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr17:67215600-67249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr17:67220400-67231200	Weak transcription	Osteobl	bone
8	chr17:67223000-67235600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr17:67224600-67248600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:67225200-67231600	Weak transcription	Ovary	ovary
11	chr17:67226800-67236400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr17:67227800-67229800	Weak transcription	Fetal Lung	lung
13	chr17:67228800-67230400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr17:67229400-67233200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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