Variant report

Variant	esv13219
Chromosome Location	chr5:16650304-16660144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16657520..16659492-chr5:16660163..16661678,2	MCF-7	breast:

Extended variants
information (count: 444 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs378330	chr5:16650304-16650305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs438138	chr5:16650310-16650311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs148859434	chr5:16650333-16650334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531483403	chr5:16650349-16650350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372610764	chr5:16650375-16650376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567753829	chr5:16650452-16650453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs429234	chr5:16650453-16650454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548443451	chr5:16650457-16650458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs411918	chr5:16650460-16650461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534092441	chr5:16650463-16650464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559108761	chr5:16650487-16650488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34840790	chr5:16650496-16650497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs835685	chr5:16650501-16650502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115028064	chr5:16650504-16650505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538374909	chr5:16650520-16650521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113372206	chr5:16650580-16650581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12655072	chr5:16650587-16650588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542260370	chr5:16650588-16650589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573140208	chr5:16650599-16650600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35947158	chr5:16650607-16650608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191526444	chr5:16650648-16650649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183516600	chr5:16650651-16650652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199855969	chr5:16650661-16650662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545679783	chr5:16650670-16650671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540161728	chr5:16650685-16650686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188552798	chr5:16650692-16650693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549491532	chr5:16650711-16650712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571563636	chr5:16650716-16650717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192860274	chr5:16650740-16650741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12109300	chr5:16650750-16650751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs567006556	chr5:16650772-16650773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367743787	chr5:16650788-16650789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534556083	chr5:16650791-16650792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552486292	chr5:16650795-16650796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs447562	chr5:16650796-16650797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs371028	chr5:16650847-16650848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs185829664	chr5:16650848-16650849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368184215	chr5:16650865-16650866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146890222	chr5:16650873-16650874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375979632	chr5:16650896-16650897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12110160	chr5:16650908-16650909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577473665	chr5:16650932-16650933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189432898	chr5:16650950-16650951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546114593	chr5:16651011-16651012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs410112	chr5:16651045-16651046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs403174	chr5:16651092-16651093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543226403	chr5:16651130-16651131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139365285	chr5:16651154-16651155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191436946	chr5:16651155-16651156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183629772	chr5:16651171-16651172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16650000-16664600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:16652600-16663000	Weak transcription	Primary T cells from cord blood	blood
3	chr5:16653800-16663600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:16655000-16655200	Enhancers	Hela-S3	cervix
5	chr5:16655200-16655400	Weak transcription	Hela-S3	cervix
6	chr5:16655600-16655800	Enhancers	Esophagus	oesophagus
7	chr5:16655600-16655800	ZNF genes & repeats	Pancreas	Pancrea
8	chr5:16655600-16655800	Bivalent Enhancer	NHDF-Ad	bronchial
9	chr5:16655800-16664000	Weak transcription	Pancreas	Pancrea
10	chr5:16655800-16670600	Weak transcription	Esophagus	oesophagus
11	chr5:16656000-16657200	Weak transcription	NHDF-Ad	bronchial
12	chr5:16656200-16656400	Weak transcription	Hela-S3	cervix
13	chr5:16656200-16657000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:16656400-16656800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:16656400-16657000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr5:16656400-16657200	Enhancers	HMEC	breast
17	chr5:16656400-16657800	Enhancers	Adipose Nuclei	Adipose
18	chr5:16656600-16657200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:16656600-16657200	Enhancers	Hela-S3	cervix
20	chr5:16656600-16658000	Enhancers	NHEK	skin
21	chr5:16656800-16657000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:16656800-16657000	Enhancers	Fetal Brain Female	brain
23	chr5:16656800-16657000	Enhancers	Osteobl	bone
24	chr5:16656800-16657200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:16656800-16657200	Enhancers	Placenta	Placenta
26	chr5:16656800-16657400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr5:16657000-16657200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:16657000-16657600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:16657000-16658200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:16657000-16664000	Weak transcription	Fetal Brain Female	brain
31	chr5:16657000-16665600	Weak transcription	Osteobl	bone
32	chr5:16657000-16668000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:16657200-16657400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:16657200-16657400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:16657200-16657400	Enhancers	NHDF-Ad	bronchial
36	chr5:16657200-16660400	Weak transcription	Placenta	Placenta
37	chr5:16657200-16662800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:16657200-16663800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:16657200-16663800	Weak transcription	HMEC	breast
40	chr5:16657400-16658400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:16657400-16663200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:16657400-16664000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:16657400-16665600	Weak transcription	NHDF-Ad	bronchial
44	chr5:16657600-16658800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:16657800-16666600	Weak transcription	Adipose Nuclei	Adipose
46	chr5:16658000-16663800	Weak transcription	NHEK	skin
47	chr5:16658200-16670400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:16658400-16663600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:16658800-16659600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:16658800-16663400	Weak transcription	A549	lung

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