Variant report

Variant	esv3470761
Chromosome Location	chr5:151580864-151583896
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	chr5:151580655..151582436-chr5:151582503..151585024,2	MCF-7	breast:
2	chr5:151580655..151582436-chr5:151582503..151585024,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561919145	chr5:151580876-151580877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140908803	chr5:151580922-151580923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150400655	chr5:151580932-151580933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs169819	chr5:151580934-151580935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138164466	chr5:151581040-151581041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527648545	chr5:151581078-151581079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35547294	chr5:151581113-151581114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186006333	chr5:151581135-151581136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576104721	chr5:151581185-151581186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142783793	chr5:151581205-151581206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190905639	chr5:151581231-151581232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550155121	chr5:151581243-151581244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368124791	chr5:151581245-151581246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372722401	chr5:151581291-151581292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183123108	chr5:151581294-151581295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145035115	chr5:151581316-151581317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186450510	chr5:151581342-151581343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547488042	chr5:151581401-151581402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565683753	chr5:151581431-151581432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190446770	chr5:151581506-151581507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375235376	chr5:151581538-151581539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545504851	chr5:151581547-151581548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576307857	chr5:151581620-151581621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537332950	chr5:151581643-151581644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558627782	chr5:151581649-151581650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs707173	chr5:151581680-151581681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs573748168	chr5:151581725-151581726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541939180	chr5:151581747-151581748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73798050	chr5:151581748-151581749	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs572114109	chr5:151581772-151581773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545830446	chr5:151581837-151581838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531231324	chr5:151581854-151581855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138869430	chr5:151581856-151581857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142095374	chr5:151581885-151581886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531939242	chr5:151581918-151581919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183063928	chr5:151581944-151581945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112844317	chr5:151581949-151581950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562159004	chr5:151582033-151582034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373719377	chr5:151582065-151582066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17663037	chr5:151582105-151582106	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187647712	chr5:151582107-151582108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11748796	chr5:151582185-151582186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13177923	chr5:151582200-151582201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1422929	chr5:151582211-151582212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs533056984	chr5:151582224-151582225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529211175	chr5:151582247-151582248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551426719	chr5:151582257-151582258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376180630	chr5:151582289-151582290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569620825	chr5:151582309-151582310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13178100	chr5:151582317-151582318	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151573400-151581600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:151581600-151582400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:151582800-151583400	Enhancers	Stomach Mucosa	stomach

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