Variant report

Variant	rs5749124
Chromosome Location	chr22:30943356-30943357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12166447	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12170589	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4149493	1.00[EUR][1000 genomes]
rs5753178	1.00[EUR][1000 genomes]
rs5753183	1.00[EUR][1000 genomes]
rs5753194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62226963	1.00[EUR][1000 genomes]
rs6518696	1.00[EUR][1000 genomes]
rs6518697	1.00[EUR][1000 genomes]
rs7289983	1.00[EUR][1000 genomes]
rs8138980	1.00[EUR][1000 genomes]
rs9621016	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30939000-30949800	Weak transcription	Brain Angular Gyrus	brain
2	chr22:30939000-30950800	Weak transcription	Pancreas	Pancrea
3	chr22:30939000-30951400	Weak transcription	Ovary	ovary
4	chr22:30939000-30962000	Weak transcription	Liver	Liver
5	chr22:30939200-30949800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr22:30939200-30951000	Weak transcription	Brain Substantia Nigra	brain
7	chr22:30939200-30951000	Weak transcription	Gastric	stomach
8	chr22:30939400-30950200	Weak transcription	Brain Anterior Caudate	brain
9	chr22:30942200-30949000	Weak transcription	Fetal Intestine Small	intestine
10	chr22:30942600-30943400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr22:30942600-30943400	Enhancers	Placenta	Placenta
12	chr22:30942800-30943400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:30942800-30943800	Bivalent Enhancer	HepG2	liver
14	chr22:30943000-30943400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:30943000-30943800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:30943200-30943400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:30943200-30943400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:30943200-30943400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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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

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