Variant report

Variant	rs73399512
Chromosome Location	chr22:33670259-33670260
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33612529..33613227-chr22:33669901..33670840,2	MCF-7	breast:
2	chr22:33612737..33613244-chr22:33670107..33670653,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs60775913	1.00[AMR][1000 genomes]
rs61048601	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399527	1.00[AMR][1000 genomes]
rs73399532	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs741979	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1064192	chr22:33615699-33741836	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1059927	chr22:33615699-33904339	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv544682	chr22:33615699-33904339	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1060316	chr22:33644676-33737725	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1056097	chr22:33650328-33733456	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33660000-33722800	Weak transcription	HSMMtube	muscle
2	chr22:33661600-33670600	Weak transcription	Lung	lung
3	chr22:33664400-33672600	Enhancers	Primary B cells from peripheral blood	blood
4	chr22:33665200-33672800	Enhancers	HepG2	liver
5	chr22:33666000-33676800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr22:33666200-33676800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:33666800-33713600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr22:33667200-33678600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr22:33667200-33697800	Weak transcription	Colon Smooth Muscle	Colon
10	chr22:33667600-33672600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:33667600-33676400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:33667600-33678400	Weak transcription	Brain Germinal Matrix	brain
13	chr22:33667600-33724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:33667800-33671200	Weak transcription	Fetal Heart	heart
15	chr22:33667800-33672600	Weak transcription	Brain Substantia Nigra	brain
16	chr22:33667800-33672800	Weak transcription	Colonic Mucosa	Colon
17	chr22:33667800-33672800	Weak transcription	Spleen	Spleen
18	chr22:33667800-33673000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr22:33667800-33678400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr22:33667800-33678600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr22:33667800-33678600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr22:33667800-33679000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr22:33668000-33670400	Weak transcription	Right Ventricle	heart
24	chr22:33668000-33672600	Weak transcription	Brain Angular Gyrus	brain
25	chr22:33668000-33672600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr22:33668000-33672800	Weak transcription	Adipose Nuclei	Adipose
27	chr22:33668200-33670400	Strong transcription	Left Ventricle	heart
28	chr22:33668200-33671000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:33668200-33672400	Weak transcription	Brain Anterior Caudate	brain
30	chr22:33668200-33672800	Weak transcription	Aorta	Aorta
31	chr22:33668400-33670600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr22:33668400-33672400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:33668400-33672600	Enhancers	Liver	Liver
34	chr22:33668400-33672800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr22:33668400-33672800	Weak transcription	Pancreas	Pancrea
36	chr22:33668400-33674600	Weak transcription	Fetal Kidney	kidney
37	chr22:33668400-33678200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr22:33668400-33697800	Weak transcription	Brain Hippocampus Middle	brain
39	chr22:33668400-33712200	Weak transcription	Esophagus	oesophagus
40	chr22:33668600-33672600	Weak transcription	Fetal Brain Female	brain
41	chr22:33668800-33670400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr22:33668800-33670600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr22:33668800-33670600	Strong transcription	Ovary	ovary
44	chr22:33668800-33670800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr22:33668800-33671200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr22:33668800-33672600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr22:33668800-33720400	Weak transcription	Psoas Muscle	Psoas
48	chr22:33669000-33672600	Weak transcription	Gastric	stomach
49	chr22:33669200-33670400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:33669200-33670400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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