Variant report

Variant	esv3429908
Chromosome Location	chr3:60366107-60366469
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	chr3:60364373..60366879-chr3:60368723..60370826,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543100689	chr3:60366107-60366108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183421479	chr3:60366125-60366126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531801604	chr3:60366147-60366148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562750335	chr3:60366151-60366152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550031104	chr3:60366163-60366164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9816428	chr3:60366178-60366179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs140620992	chr3:60366212-60366213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547468083	chr3:60366229-60366230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187558232	chr3:60366255-60366256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150475915	chr3:60366256-60366257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558243300	chr3:60366291-60366292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570627930	chr3:60366294-60366295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538061368	chr3:60366337-60366338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138289092	chr3:60366365-60366366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149611318	chr3:60366371-60366372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192905085	chr3:60366382-60366383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554575683	chr3:60366397-60366398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542018630	chr3:60366416-60366417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2687167	chr3:60366457-60366458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Cancer	18162546	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD
Glioma	20126413	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60364800-60367200	Weak transcription	Pancreas	Pancrea

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