Variant report

Variant	rs72820461
Chromosome Location	chr16:80499499-80499500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55809401	1.00[ASN][1000 genomes]
rs55819552	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56222863	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197378	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72820453	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72820459	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061068	chr16:80207546-80537052	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2762333	chr16:80307755-80509983	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv833299	chr16:80341745-80549683	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv907001	chr16:80405292-80620611	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv510692	chr16:80432497-80503607	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1055975	chr16:80437861-80513030	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv907002	chr16:80441420-80510943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2751614	chr16:80459551-80511649	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv833300	chr16:80475066-80601036	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1061099	chr16:80488917-80503223	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1063620	chr16:80489718-80503223	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv457558	chr16:80490131-80503421	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv573298	chr16:80490131-80503421	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv573299	chr16:80493705-80503421	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv457559	chr16:80498094-80507621	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv573300	chr16:80498094-80507621	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80492400-80502600	Enhancers	Liver	Liver
2	chr16:80494600-80500000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr16:80494600-80500200	Weak transcription	Osteobl	bone
4	chr16:80495000-80501200	Enhancers	Fetal Intestine Large	intestine
5	chr16:80495400-80500600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr16:80495800-80500800	Enhancers	Fetal Intestine Small	intestine
7	chr16:80498000-80499600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:80498000-80500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:80498200-80500600	Weak transcription	Fetal Kidney	kidney
10	chr16:80498400-80499800	Weak transcription	HepG2	liver
11	chr16:80498400-80500000	Weak transcription	Stomach Mucosa	stomach
12	chr16:80498400-80500200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr16:80499000-80500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:80499200-80500200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr16:80499200-80500200	Weak transcription	HMEC	breast
16	chr16:80499200-80500200	Weak transcription	NHEK	skin
17	chr16:80499400-80499800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr16:80499400-80500000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr16:80499400-80500800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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