Variant report

Variant	esv275244
Chromosome Location	chr5:4939492-4944558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:4879643..4880381-chr5:4942503..4943063,2	MCF-7	breast:
2	chr5:4879562..4880556-chr5:4942080..4943092,7	MCF-7	breast:
3	chr5:4868375..4868917-chr5:4942364..4943080,2	K562	blood:
4	chr5:4942676..4944609-chr5:4946788..4948498,2	MCF-7	breast:

Extended variants
information (count: 255 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561212312	chr5:4939538-4939539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141882199	chr5:4939551-4939552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543958848	chr5:4939552-4939553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs58321312	chr5:4939567-4939568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532763066	chr5:4939579-4939580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568588990	chr5:4939622-4939623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552858430	chr5:4939648-4939649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35730124	chr5:4939662-4939663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560033579	chr5:4939663-4939664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527276134	chr5:4939678-4939679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138887914	chr5:4939695-4939696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377135917	chr5:4939706-4939707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544690353	chr5:4939717-4939718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529704018	chr5:4939738-4939739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112502368	chr5:4939746-4939747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549472934	chr5:4939773-4939774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569463016	chr5:4939787-4939788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538491570	chr5:4939791-4939792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149443708	chr5:4939797-4939798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182851080	chr5:4939798-4939799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566000992	chr5:4939805-4939806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11346154	chr5:4939812-4939813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187495874	chr5:4939815-4939816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554923602	chr5:4939830-4939831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574902031	chr5:4939845-4939846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543897420	chr5:4939848-4939849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557495598	chr5:4939884-4939885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577512139	chr5:4939897-4939898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546452284	chr5:4939904-4939905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113956256	chr5:4939918-4939919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190762372	chr5:4939923-4939924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183291452	chr5:4939939-4939940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560897934	chr5:4939953-4939954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187776623	chr5:4939982-4939983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146394620	chr5:4940011-4940012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569450798	chr5:4940056-4940057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532162335	chr5:4940069-4940070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373795315	chr5:4940095-4940096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13167152	chr5:4940097-4940098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs552876	chr5:4940099-4940100	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs534887198	chr5:4940103-4940104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554577800	chr5:4940127-4940128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568417670	chr5:4940141-4940142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146176051	chr5:4940189-4940190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557483443	chr5:4940192-4940193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114055664	chr5:4940218-4940219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546002812	chr5:4940245-4940246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs386684929	chr5:4940251-4940252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs686862	chr5:4940255-4940256	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs148437757	chr5:4940256-4940257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Glioblastoma multiforme	22286061	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
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
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
T-cell prolymphocytic leukemia	17713554	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	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
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:4936400-4942000	Weak transcription	Adipose Nuclei	Adipose
2	chr5:4937800-4945600	Enhancers	Fetal Muscle Leg	muscle
3	chr5:4939000-4942200	Enhancers	Fetal Muscle Trunk	muscle
4	chr5:4939400-4942000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:4942000-4942200	Enhancers	Adipose Nuclei	Adipose
6	chr5:4942000-4944000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:4942200-4942400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr5:4942200-4942600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:4942200-4942600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr5:4942200-4942600	Enhancers	Ovary	ovary
11	chr5:4942200-4943600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:4942400-4942600	Active TSS	Adipose Nuclei	Adipose
13	chr5:4942400-4943200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:4942600-4943200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:4942600-4943400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:4942600-4943400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:4942600-4943400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:4942600-4943400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:4942600-4943600	Weak transcription	Adipose Nuclei	Adipose
20	chr5:4942800-4943200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:4942800-4943600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:4943600-4944000	Enhancers	Adipose Nuclei	Adipose
23	chr5:4944000-4946200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:4944000-4947800	Weak transcription	Adipose Nuclei	Adipose

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