Variant report

Variant	rs28594767
Chromosome Location	chr16:73079415-73079416
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72961643..72964004-chr16:73079315..73080843,2	MCF-7	breast:
2	chr16:73013583..73015473-chr16:73077986..73080970,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13330336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13332183	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28407789	0.91[AFR][1000 genomes]
rs59902979	1.00[AMR][1000 genomes]
rs7189909	1.00[AMR][1000 genomes]
rs74028076	1.00[AMR][1000 genomes]
rs74028077	1.00[AMR][1000 genomes]
rs74028078	1.00[AMR][1000 genomes]
rs9924932	1.00[AMR][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	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv827730	chr16:73066699-73115642	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv827732	chr16:73069343-73116594	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv827733	chr16:73075114-73103721	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1819498	chr16:73079212-73092845	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73067800-73081400	Weak transcription	Small Intestine	intestine
2	chr16:73070400-73080400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr16:73071000-73079800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:73071200-73081200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr16:73071600-73081200	Weak transcription	Esophagus	oesophagus
6	chr16:73072200-73080000	Weak transcription	Stomach Mucosa	stomach
7	chr16:73072400-73080000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr16:73072400-73080800	Weak transcription	Spleen	Spleen
9	chr16:73072600-73080200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:73074800-73080600	Weak transcription	HMEC	breast
11	chr16:73075000-73080800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:73075400-73080000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr16:73076000-73080600	Enhancers	Psoas Muscle	Psoas
14	chr16:73076000-73081000	Enhancers	Placenta	Placenta
15	chr16:73076200-73081000	Enhancers	Fetal Muscle Leg	muscle
16	chr16:73076200-73081200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr16:73076400-73080000	Enhancers	Brain Hippocampus Middle	brain
18	chr16:73076400-73080200	Enhancers	Adipose Nuclei	Adipose
19	chr16:73076600-73079600	Enhancers	Rectal Smooth Muscle	rectum
20	chr16:73076600-73080000	Enhancers	HepG2	liver
21	chr16:73076600-73080800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr16:73076600-73081000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:73076600-73081200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr16:73077000-73080000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:73077000-73080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:73077000-73080800	Enhancers	Fetal Kidney	kidney
27	chr16:73077000-73081200	Enhancers	Fetal Heart	heart
28	chr16:73077200-73081400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr16:73077400-73080000	Enhancers	NHDF-Ad	bronchial
30	chr16:73077400-73080600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:73077600-73079800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr16:73077600-73080200	Weak transcription	Lung	lung
33	chr16:73077600-73080800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:73077800-73079800	Enhancers	HSMMtube	muscle
35	chr16:73077800-73081200	Weak transcription	Colonic Mucosa	Colon
36	chr16:73078000-73079800	Weak transcription	Fetal Intestine Large	intestine
37	chr16:73078000-73080000	Enhancers	Hela-S3	cervix
38	chr16:73078000-73080200	Weak transcription	Right Ventricle	heart
39	chr16:73078000-73080200	Enhancers	Osteobl	bone
40	chr16:73078400-73080000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr16:73078400-73080000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr16:73078400-73080000	Enhancers	HSMM	muscle
43	chr16:73078400-73080200	Weak transcription	Aorta	Aorta
44	chr16:73078400-73080200	Weak transcription	Brain Anterior Caudate	brain
45	chr16:73078400-73080200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr16:73078400-73080400	Enhancers	Colon Smooth Muscle	Colon
47	chr16:73078400-73080600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:73078400-73080800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
49	chr16:73078400-73081000	Enhancers	Right Atrium	heart
50	chr16:73078600-73079800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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