Variant report

Variant	esv3344188
Chromosome Location	chr5:45495799-45525161
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	chr5:44952200..44952811-chr5:45521283..45521849,2	MCF-7	breast:
2	chr5:45038409..45039119-chr5:45520902..45521831,4	MCF-7	breast:

Extended variants
information (count: 644 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560938510	chr5:45495879-45495880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199863074	chr5:45495887-45495888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530351837	chr5:45495909-45495910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540820191	chr5:45495931-45495932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560812849	chr5:45495996-45495997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10473388	chr5:45496017-45496018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532697576	chr5:45496066-45496067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536590522	chr5:45496116-45496117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552792320	chr5:45496160-45496161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569171263	chr5:45496171-45496172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531701380	chr5:45496183-45496184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548301651	chr5:45496187-45496188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568201454	chr5:45496208-45496209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557815199	chr5:45496212-45496213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552748643	chr5:45496213-45496214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566617715	chr5:45496250-45496251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538566713	chr5:45496348-45496349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200896377	chr5:45496422-45496423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558782148	chr5:45496444-45496445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575154469	chr5:45496447-45496448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572997644	chr5:45496479-45496480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554743771	chr5:45496481-45496482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534009609	chr5:45496488-45496489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183116211	chr5:45496494-45496495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560676513	chr5:45496548-45496549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532703047	chr5:45496553-45496554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140626355	chr5:45496563-45496564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563173486	chr5:45496575-45496576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186886711	chr5:45496576-45496577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548170191	chr5:45496588-45496589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192086460	chr5:45496605-45496606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184017022	chr5:45496606-45496607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547445915	chr5:45496642-45496643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566564707	chr5:45496643-45496644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538800296	chr5:45496675-45496676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552218153	chr5:45496688-45496689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569121846	chr5:45496734-45496735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375456771	chr5:45496742-45496743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554608021	chr5:45496743-45496744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530227428	chr5:45496747-45496748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574444731	chr5:45496756-45496757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533886090	chr5:45496843-45496844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553872670	chr5:45496850-45496851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577392237	chr5:45496857-45496858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187774233	chr5:45496899-45496900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563080689	chr5:45496901-45496902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576672791	chr5:45496918-45496919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542073894	chr5:45496935-45496936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200224515	chr5:45496947-45496948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368409678	chr5:45496948-45496949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45492000-45500200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:45505800-45509600	Enhancers	Fetal Brain Female	brain
3	chr5:45506400-45506600	Enhancers	Fetal Brain Male	brain
4	chr5:45506600-45507600	Weak transcription	Fetal Brain Male	brain
5	chr5:45507200-45507600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:45507200-45507800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:45507200-45508400	Enhancers	Brain Germinal Matrix	brain
8	chr5:45507400-45507600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:45507400-45507600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr5:45507600-45510000	Enhancers	Fetal Brain Male	brain
11	chr5:45509600-45510800	Weak transcription	Fetal Brain Female	brain
12	chr5:45510800-45511000	Enhancers	Fetal Brain Female	brain
13	chr5:45515400-45516200	Enhancers	Fetal Heart	heart
14	chr5:45518200-45518600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:45518600-45524000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:45520800-45521200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:45520800-45521200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:45521000-45521400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:45521400-45521800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr5:45521400-45521800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr5:45524000-45524200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:45524200-45526400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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