Variant report

Variant	rs72547421
Chromosome Location	chr16:82118853-82118854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16956334	1.00[AMR][1000 genomes]
rs1981880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8191075	1.00[AMR][1000 genomes]
rs8191093	1.00[AMR][1000 genomes]
rs8191110	1.00[AMR][1000 genomes]
rs8191118	1.00[AMR][1000 genomes]
rs8191132	1.00[AMR][1000 genomes]
rs8191143	1.00[AMR][1000 genomes]
rs8191216	1.00[AMR][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:19 , 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	chr16:82115800-82119200	Enhancers	Fetal Intestine Small	intestine
4	chr16:82115800-82119400	Enhancers	Fetal Intestine Large	intestine
5	chr16:82116000-82127400	Weak transcription	Gastric	stomach
6	chr16:82116400-82119200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr16:82116800-82119000	Weak transcription	NHEK	skin
8	chr16:82117200-82124600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:82117400-82121600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:82117800-82119000	Enhancers	HepG2	liver
11	chr16:82117800-82119400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr16:82117800-82122800	Enhancers	Liver	Liver
13	chr16:82117800-82124000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:82118000-82119200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr16:82118000-82119600	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr16:82118000-82120000	Weak transcription	Placenta	Placenta
17	chr16:82118000-82135800	Weak transcription	Pancreas	Pancrea
18	chr16:82118400-82119200	Enhancers	HSMMtube	muscle
19	chr16:82118600-82134800	Weak transcription	Colonic Mucosa	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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