Variant report

Variant	esv2528556
Chromosome Location	chr5:107366353-107367822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553337378	chr5:107366404-107366405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116024780	chr5:107366405-107366406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17440916	chr5:107366443-107366444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376422957	chr5:107366524-107366525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530153341	chr5:107366532-107366533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143956700	chr5:107366549-107366550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78000316	chr5:107366584-107366585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532333774	chr5:107366603-107366604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558173586	chr5:107366611-107366612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35795390	chr5:107366613-107366614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199802861	chr5:107366618-107366619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567104660	chr5:107366629-107366630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192411518	chr5:107366637-107366638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369157676	chr5:107366684-107366685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531478667	chr5:107366707-107366708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548479268	chr5:107366719-107366720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184309338	chr5:107366763-107366764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147278399	chr5:107366766-107366767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553442033	chr5:107366767-107366768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548987548	chr5:107366807-107366808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555305380	chr5:107366815-107366816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139808774	chr5:107366847-107366848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539526389	chr5:107366933-107366934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558858830	chr5:107366948-107366949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575812574	chr5:107366983-107366984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538143699	chr5:107367031-107367032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555326892	chr5:107367035-107367036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114139678	chr5:107367140-107367141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540667760	chr5:107367165-107367166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149795079	chr5:107367194-107367195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189610886	chr5:107367197-107367198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144702090	chr5:107367206-107367207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562508654	chr5:107367209-107367210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373425073	chr5:107367214-107367215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531567687	chr5:107367230-107367231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548185148	chr5:107367252-107367253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561690019	chr5:107367264-107367265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148507677	chr5:107367275-107367276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546943527	chr5:107367294-107367295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537954098	chr5:107367303-107367304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534579331	chr5:107367342-107367343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143485993	chr5:107367453-107367454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539129206	chr5:107367464-107367465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146743000	chr5:107367485-107367486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573826334	chr5:107367550-107367551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74597328	chr5:107367608-107367609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544299146	chr5:107367616-107367617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374224816	chr5:107367662-107367663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538476531	chr5:107367663-107367664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555290073	chr5:107367676-107367677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107339600-107373800	Weak transcription	Primary T cells from cord blood	blood
2	chr5:107361000-107369800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:107361200-107368000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:107361600-107369200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:107364000-107390000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:107364400-107373200	Weak transcription	Pancreas	Pancrea
7	chr5:107365200-107369200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:107365800-107366400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:107366200-107366400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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