Variant report

Variant	rs62046327
Chromosome Location	chr16:82119393-82119394
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10514523	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1119933	0.81[EUR][1000 genomes]
rs11645641	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1364287	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1559428	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981878	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1981879	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62046326	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7196807	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs723012	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs723013	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8191243	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8191248	0.82[EUR][1000 genomes]
rs996751	0.82[AMR][1000 genomes];0.83[EUR][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	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1061709	chr16:82093183-82159867	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr16:82104800-82124400	Weak transcription	Fetal Stomach	stomach
2	chr16:82114800-82119400	Enhancers	Stomach Mucosa	stomach
3	chr16:82115800-82119400	Enhancers	Fetal Intestine Large	intestine
4	chr16:82116000-82127400	Weak transcription	Gastric	stomach
5	chr16:82117200-82124600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:82117400-82121600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:82117800-82119400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr16:82117800-82122800	Enhancers	Liver	Liver
9	chr16:82117800-82124000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:82118000-82119600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr16:82118000-82120000	Weak transcription	Placenta	Placenta
12	chr16:82118000-82135800	Weak transcription	Pancreas	Pancrea
13	chr16:82118600-82134800	Weak transcription	Colonic Mucosa	Colon
14	chr16:82119000-82119400	Enhancers	NHEK	skin
15	chr16:82119000-82123400	Weak transcription	HepG2	liver
16	chr16:82119200-82123800	Weak transcription	Fetal Intestine Small	intestine
17	chr16:82119200-82129000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr16:82119200-82135800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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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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