Variant report

Variant	rs58131112
Chromosome Location	chr21:29086083-29086084
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12329918	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1367712	0.90[ASN][1000 genomes]
rs1367713	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1431364	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1579524	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17646172	0.91[ASN][1000 genomes]
rs1835647	0.80[AFR][1000 genomes]
rs2831099	0.91[ASN][1000 genomes]
rs2831101	0.88[ASN][1000 genomes]
rs2831102	0.91[ASN][1000 genomes]
rs2831103	0.91[ASN][1000 genomes]
rs73183768	0.84[ASN][1000 genomes]
rs73183769	0.84[ASN][1000 genomes]
rs9979777	0.88[ASN][1000 genomes]
rs9981239	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1059423	chr21:28957144-29306656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv913670	chr21:29022265-29525767	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1059134	chr21:29061408-29188185	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:29084600-29086800	Enhancers	Colon Smooth Muscle	Colon
2	chr21:29084800-29086800	Enhancers	Rectal Smooth Muscle	rectum
3	chr21:29085200-29086200	Enhancers	Stomach Mucosa	stomach
4	chr21:29085400-29086200	Enhancers	NHEK	skin
5	chr21:29085600-29086200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:29085600-29086200	Enhancers	Duodenum Mucosa	Duodenum
7	chr21:29085600-29086200	Enhancers	HMEC	breast
8	chr21:29085800-29086200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:29085800-29086200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:29085800-29086200	Enhancers	Fetal Intestine Small	intestine
11	chr21:29085800-29086200	Enhancers	Gastric	stomach
12	chr21:29085800-29086200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr21:29085800-29086200	Enhancers	Right Atrium	heart
14	chr21:29085800-29086200	Enhancers	Stomach Smooth Muscle	stomach
15	chr21:29085800-29086400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr21:29086000-29094200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	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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