Variant report

Variant	rs28756117
Chromosome Location	chr13:53627415-53627416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12552	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1318007	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2298236	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34055554	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv832613	chr13:53524319-53687188	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr13:53610800-53628800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr13:53619400-53633000	Weak transcription	Pancreas	Pancrea
3	chr13:53625000-53638800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr13:53626200-53627600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:53626400-53628000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:53626400-53628000	Enhancers	Fetal Muscle Leg	muscle
7	chr13:53626600-53627600	Enhancers	Brain Hippocampus Middle	brain
8	chr13:53626800-53628400	Enhancers	Brain Angular Gyrus	brain
9	chr13:53626800-53631200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:53627000-53632200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr13:53627000-53632200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:53627000-53632200	Weak transcription	Fetal Stomach	stomach
13	chr13:53627200-53628800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr13:53627400-53628400	Enhancers	hESC Derived CD56+ Ectoderm 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