Variant report

Variant	rs5998230
Chromosome Location	chr22:32472131-32472132
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs5994464	1.00[AFR][1000 genomes]
rs5994470	1.00[AFR][1000 genomes]
rs5994474	1.00[AFR][1000 genomes]
rs5998239	1.00[AFR][1000 genomes]
rs5998244	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060529	chr22:32370432-32525699	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv834177	chr22:32416679-32594663	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	esv1803811	chr22:32441022-32509431	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 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	chr22:32460400-32476000	Weak transcription	Pancreas	Pancrea
2	chr22:32468400-32476600	Enhancers	Fetal Intestine Large	intestine
3	chr22:32469400-32472400	Genic enhancers	Left Ventricle	heart
4	chr22:32469400-32489800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:32469600-32478200	Genic enhancers	Fetal Intestine Small	intestine
6	chr22:32470200-32472400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:32470200-32472400	Enhancers	Fetal Heart	heart
8	chr22:32470600-32472800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:32470800-32473000	Genic enhancers	Duodenum Mucosa	Duodenum
10	chr22:32470800-32474600	Weak transcription	Liver	Liver
11	chr22:32472000-32472600	Enhancers	Right Ventricle	heart
12	chr22:32472000-32473000	Enhancers	Right Atrium	heart
13	chr22:32472000-32473400	Enhancers	Colonic Mucosa	Colon
14	chr22:32472000-32473400	Enhancers	Rectal Mucosa Donor 29	rectum

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