Variant report

Variant	esv3387506
Chromosome Location	chr5:119819178-119821426
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	chr5:119808055..119810558-chr5:119818687..119821313,2	K562	blood:
2	chr5:119814891..119816438-chr5:119818822..119820625,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138230196	chr5:119819194-119819195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201092316	chr5:119819224-119819225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536417960	chr5:119819257-119819258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149500694	chr5:119819307-119819308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114851275	chr5:119819313-119819314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369593890	chr5:119819315-119819316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569776605	chr5:119819325-119819326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369877529	chr5:119819358-119819359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116644583	chr5:119819392-119819393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553479805	chr5:119819446-119819447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62376366	chr5:119819499-119819500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573509851	chr5:119819523-119819524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542560555	chr5:119819524-119819525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146009515	chr5:119819535-119819536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2691096	chr5:119819544-119819545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192223557	chr5:119819582-119819583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139958683	chr5:119819588-119819589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544768208	chr5:119819594-119819595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141904910	chr5:119819611-119819612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533256408	chr5:119819624-119819625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146180962	chr5:119819633-119819634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183398826	chr5:119819666-119819667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570595122	chr5:119819669-119819670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148392583	chr5:119819686-119819687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142513447	chr5:119819717-119819718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187734632	chr5:119819718-119819719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150950399	chr5:119819783-119819784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551284123	chr5:119819804-119819805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192292549	chr5:119819832-119819833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571359505	chr5:119819857-119819858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113738541	chr5:119819909-119819910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74913941	chr5:119819932-119819933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2691097	chr5:119819956-119819957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542011411	chr5:119819988-119819989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556096456	chr5:119819989-119819990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576003710	chr5:119819997-119819998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368896643	chr5:119820052-119820053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373023854	chr5:119820054-119820055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34880381	chr5:119820055-119820056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397824829	chr5:119820059-119820060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13153516	chr5:119820060-119820061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546861141	chr5:119820082-119820083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145538429	chr5:119820148-119820149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537499360	chr5:119820157-119820158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559042655	chr5:119820159-119820160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2691098	chr5:119820178-119820179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540395306	chr5:119820221-119820222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6865123	chr5:119820362-119820363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564144486	chr5:119820426-119820427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74575413	chr5:119820524-119820525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119808600-119835800	Weak transcription	HSMM	muscle
2	chr5:119812000-119826800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:119812200-119840000	Weak transcription	Fetal Lung	lung
4	chr5:119816200-119819600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:119816400-119835400	Weak transcription	Osteobl	bone
6	chr5:119816600-119843000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:119818200-119845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:119818600-119835000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:119819000-119829400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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