Variant report

Variant	nsv876858
Chromosome Location	chr3:60506349-60519576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:60509060..60510930-chr3:60511428..60512938,2	K562	blood:
2	chr3:60506754..60508368-chr3:60516500..60519417,2	K562	blood:
3	chr3:60502053..60505036-chr3:60509426..60512103,2	K562	blood:
4	chr3:60509060..60510930-chr3:60511428..60512938,2	K562	blood:
5	chr3:60503536..60506034-chr3:60508761..60510926,2	K562	blood:
6	chr3:60506754..60508368-chr3:60516500..60519417,2	K562	blood:

Extended variants
information (count: 579 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145635649	chr3:60507607-60507608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73103760	chr3:60507632-60507633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531679991	chr3:60507689-60507690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549800310	chr3:60507699-60507700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143552355	chr3:60507717-60507718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539373186	chr3:60507719-60507720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535452455	chr3:60507736-60507737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528044327	chr3:60507750-60507751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539977921	chr3:60507766-60507767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553798883	chr3:60507774-60507775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148097291	chr3:60507777-60507778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377217029	chr3:60507779-60507780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1823242	chr3:60507811-60507812	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
14	rs141882592	chr3:60507823-60507824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377051351	chr3:60507839-60507840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151736	chr3:60507840-60507841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576317137	chr3:60507842-60507843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543751340	chr3:60507906-60507907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555641337	chr3:60507922-60507923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573655213	chr3:60507925-60507926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184508729	chr3:60507930-60507931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76840121	chr3:60507931-60507932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371228250	chr3:60507934-60507935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs241665	chr3:60507953-60507954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150647750	chr3:60507977-60507978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369617026	chr3:60508006-60508007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373222536	chr3:60508016-60508017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187849156	chr3:60508033-60508034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139855531	chr3:60508041-60508042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143232684	chr3:60508064-60508065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147526249	chr3:60508075-60508076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547108577	chr3:60508096-60508097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79613752	chr3:60508131-60508132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551586884	chr3:60508137-60508138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564705853	chr3:60509407-60509408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576577777	chr3:60509411-60509412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544588106	chr3:60509457-60509458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562984410	chr3:60509459-60509460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140392737	chr3:60509480-60509481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542275435	chr3:60509531-60509532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17063438	chr3:60509610-60509611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528651221	chr3:60509614-60509615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547200559	chr3:60509623-60509624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17063440	chr3:60509645-60509646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532884330	chr3:60509718-60509719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115776256	chr3:60509734-60509735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569230060	chr3:60509747-60509748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543895889	chr3:60509752-60509753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72883948	chr3:60509755-60509756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539579104	chr3:60509782-60509783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60507600-60508200	Enhancers	Fetal Brain Male	brain
2	chr3:60509400-60523400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:60514800-60519000	Weak transcription	Fetal Kidney	kidney
4	chr3:60516200-60516400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:60518200-60519000	Enhancers	Fetal Brain Female	brain
6	chr3:60519000-60519200	Enhancers	Fetal Kidney	kidney
7	chr3:60519200-60522200	Weak transcription	Fetal Kidney	kidney

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