Variant report

Variant	rs72793299
Chromosome Location	chr16:72883910-72883911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:72880635..72884317-chr16:73081459..73084929,5	MCF-7	breast:
2	chr16:72867608..72872657-chr16:72880738..72885405,9	MCF-7	breast:
3	chr16:72874571..72877470-chr16:72881574..72886703,5	MCF-7	breast:
4	chr16:72883257..72885114-chr16:72985749..72987420,2	MCF-7	breast:
5	chr16:72882688..72884307-chr16:72909000..72911546,2	MCF-7	breast:
6	chr16:72881181..72884043-chr16:72942574..72944865,2	MCF-7	breast:
7	chr16:72881608..72884159-chr16:72959106..72961995,2	MCF-7	breast:
8	chr16:72862066..72864756-chr16:72883193..72885070,2	MCF-7	breast:
9	chr16:72881425..72884440-chr16:72889651..72893703,3	MCF-7	breast:
10	chr16:72853198..72855829-chr16:72881479..72883914,2	MCF-7	breast:
11	chr16:72882451..72883967-chr16:72893817..72896287,3	MCF-7	breast:
12	chr16:72881102..72884445-chr16:72960009..72964753,5	MCF-7	breast:
13	chr16:72883594..72886259-chr16:72953708..72956575,2	MCF-7	breast:
14	chr16:72868866..72871747-chr16:72882201..72884013,2	MCF-7	breast:
15	chr16:72875132..72886767-chr16:73085117..73094489,23	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271009	Chromatin interaction
ENSG00000140836	Chromatin interaction
ENSG00000272250	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs55973607	1.00[AFR][1000 genomes]
rs72793293	1.00[AFR][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	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72867600-72892400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:72873200-72891800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:72877800-72885400	Enhancers	Fetal Muscle Leg	muscle
4	chr16:72878000-72885800	Enhancers	Fetal Muscle Trunk	muscle
5	chr16:72879600-72885400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr16:72880000-72884200	Enhancers	Colon Smooth Muscle	Colon
7	chr16:72880200-72885400	Enhancers	Placenta	Placenta
8	chr16:72880800-72884800	Enhancers	NHDF-Ad	bronchial
9	chr16:72880800-72885400	Enhancers	Fetal Stomach	stomach
10	chr16:72881000-72885400	Enhancers	Fetal Brain Male	brain
11	chr16:72881200-72884800	Enhancers	NHLF	lung
12	chr16:72881200-72885200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:72881200-72885600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:72881400-72884200	Enhancers	Rectal Smooth Muscle	rectum
15	chr16:72881600-72884000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:72881600-72885200	Enhancers	Lung	lung
17	chr16:72881600-72885400	Enhancers	Fetal Lung	lung
18	chr16:72881600-72885400	Enhancers	Psoas Muscle	Psoas
19	chr16:72881800-72884200	Enhancers	Liver	Liver
20	chr16:72881800-72884200	Enhancers	Pancreas	Pancrea
21	chr16:72881800-72884600	Enhancers	Fetal Kidney	kidney
22	chr16:72881800-72885400	Enhancers	HUVEC	blood vessel
23	chr16:72882200-72884400	Enhancers	Aorta	Aorta
24	chr16:72882200-72885400	Enhancers	HSMMtube	muscle
25	chr16:72882400-72884200	Enhancers	Gastric	stomach
26	chr16:72882400-72886800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:72882400-72887400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr16:72882400-72887600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr16:72882400-72891800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:72882800-72885400	Enhancers	Left Ventricle	heart
31	chr16:72883200-72884200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr16:72883200-72884200	Enhancers	Duodenum Mucosa	Duodenum
33	chr16:72883200-72884200	Enhancers	Esophagus	oesophagus
34	chr16:72883200-72884200	Enhancers	Right Ventricle	heart
35	chr16:72883200-72884200	Strong transcription	HepG2	liver
36	chr16:72883200-72885200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:72883200-72885200	Enhancers	Right Atrium	heart
38	chr16:72883200-72885400	Enhancers	NH-A	brain
39	chr16:72883200-72887600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:72883200-72899200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr16:72883200-72909200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr16:72883400-72884200	Enhancers	Colonic Mucosa	Colon
43	chr16:72883400-72884400	Genic enhancers	Muscle Satellite Cultured Cells	--
44	chr16:72883400-72884400	Enhancers	Fetal Heart	heart
45	chr16:72883400-72884400	Enhancers	Stomach Smooth Muscle	stomach
46	chr16:72883400-72884800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:72883400-72884800	Enhancers	HSMM	muscle
48	chr16:72883400-72884800	Enhancers	Osteobl	bone
49	chr16:72883400-72885000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr16:72883400-72885200	Enhancers	Brain Hippocampus Middle	brain

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