Variant report

Variant	esv3415842
Chromosome Location	chr5:151510881-151514802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:151513671..151516215-chr5:151517705..151520059,3	K562	blood:
2	chr5:151513919..151516215-chr5:151517657..151519224,2	K562	blood:
3	chr5:151509815..151512281-chr5:151517345..151519719,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 87 )

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	rs186078707	chr5:151510910-151510911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534046094	chr5:151510927-151510928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs29835	chr5:151510931-151510932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs570855980	chr5:151510939-151510940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190899014	chr5:151511007-151511008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556583547	chr5:151511052-151511053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370727952	chr5:151511059-151511060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575239847	chr5:151511060-151511061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567175214	chr5:151511082-151511083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542513757	chr5:151511084-151511085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573565327	chr5:151511096-151511097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182629254	chr5:151511162-151511163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545583703	chr5:151511182-151511183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187233822	chr5:151511201-151511202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190529406	chr5:151511208-151511209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs70976050	chr5:151511262-151511263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58068612	chr5:151511288-151511289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183052025	chr5:151511331-151511332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543437429	chr5:151511340-151511341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561323389	chr5:151511363-151511364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs29834	chr5:151511364-151511365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188620400	chr5:151511373-151511374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547251464	chr5:151511374-151511375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542549049	chr5:151511399-151511400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs29833	chr5:151511424-151511425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs533203779	chr5:151511492-151511493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193242867	chr5:151511521-151511522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570960708	chr5:151511522-151511523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs365011	chr5:151511524-151511525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572493426	chr5:151511529-151511530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74923033	chr5:151511569-151511570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs29832	chr5:151511609-151511610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568431575	chr5:151511682-151511683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142434772	chr5:151511690-151511691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185737011	chr5:151511735-151511736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs29831	chr5:151511790-151511791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576723345	chr5:151511819-151511820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540064282	chr5:151511828-151511829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558052664	chr5:151511835-151511836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146752500	chr5:151511906-151511907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543083111	chr5:151511928-151511929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561359460	chr5:151511931-151511932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367570541	chr5:151511949-151511950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538188966	chr5:151511956-151511957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139284294	chr5:151511966-151511967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559265408	chr5:151511993-151511994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs29830	chr5:151511997-151511998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs549189525	chr5:151513864-151513865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567487212	chr5:151513917-151513918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141689220	chr5:151513920-151513921	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Parkinson disease	21829596	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151505600-151511600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:151511600-151512000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:151513800-151515000	Enhancers	Pancreatic Islets	Pancreatic Islet

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