Variant report

Variant	esv2622202
Chromosome Location	chr3:60239559-60241160
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	chr3:60238823..60240958-chr3:60247675..60249888,2	K562	blood:
2	chr3:60233213..60236039-chr3:60237445..60240033,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184279175	chr3:60239571-60239572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73832561	chr3:60239589-60239590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs71313761	chr3:60239603-60239604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188670023	chr3:60239619-60239620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138595089	chr3:60239635-60239636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560038803	chr3:60239664-60239665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562024674	chr3:60239677-60239678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533671872	chr3:60239688-60239689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529271983	chr3:60239712-60239713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375116212	chr3:60239733-60239734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545416155	chr3:60239736-60239737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563681429	chr3:60239792-60239793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530836289	chr3:60239796-60239797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538752738	chr3:60239797-60239798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549034063	chr3:60239800-60239801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116568112	chr3:60239817-60239818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145618205	chr3:60239835-60239836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376734308	chr3:60239843-60239844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149289010	chr3:60239871-60239872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181030792	chr3:60239876-60239877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565777641	chr3:60239923-60239924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572862696	chr3:60239991-60239992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572427707	chr3:60239993-60239994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185924570	chr3:60240027-60240028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76370382	chr3:60240070-60240071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569604354	chr3:60240075-60240076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551842396	chr3:60240082-60240083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569783001	chr3:60240136-60240137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191972298	chr3:60240137-60240138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555459471	chr3:60240163-60240164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573781787	chr3:60240166-60240167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61697132	chr3:60240200-60240201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545732978	chr3:60240219-60240220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182273769	chr3:60240235-60240236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376968254	chr3:60240258-60240259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541171822	chr3:60240282-60240283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144507061	chr3:60240303-60240304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186808517	chr3:60240304-60240305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545658876	chr3:60240306-60240307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77824336	chr3:60240323-60240324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576284657	chr3:60240329-60240330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530776476	chr3:60240348-60240349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112414007	chr3:60240444-60240445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74744673	chr3:60240457-60240458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190630053	chr3:60240526-60240527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546723680	chr3:60240542-60240543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113540039	chr3:60240570-60240571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533000676	chr3:60240604-60240605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114240749	chr3:60240616-60240617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371189807	chr3:60240620-60240621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Acute lymphoblastic leukemia	21248843	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60237200-60242200	Weak transcription	Dnd41	blood
2	chr3:60237800-60241200	Weak transcription	K562	blood

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