Variant report

Variant	nsv999663
Chromosome Location	chr3:60478040-60521596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:60483853..60486464-chr3:60489187..60492049,2	K562	blood:
2	chr3:60488135..60490633-chr3:60491194..60494068,2	K562	blood:
3	chr3:60475674..60478079-chr3:60479619..60482202,2	K562	blood:
4	chr3:60503536..60506034-chr3:60508761..60510926,2	K562	blood:
5	chr3:60492215..60494697-chr3:60503496..60505338,2	K562	blood:
6	chr3:60488135..60490633-chr3:60491194..60494068,2	K562	blood:
7	chr3:60483853..60486464-chr3:60489187..60492049,2	K562	blood:
8	chr3:60503536..60506034-chr3:60508761..60510926,2	K562	blood:
9	chr3:60476221..60479058-chr3:60482642..60484706,2	K562	blood:
10	chr3:60502053..60505036-chr3:60509426..60512103,2	K562	blood:
11	chr3:60476221..60479058-chr3:60482642..60484706,2	K562	blood:
12	chr3:60263321..60265309-chr3:60503721..60505576,2	K562	blood:
13	chr3:60486499..60489215-chr3:60499142..60502130,2	K562	blood:
14	chr3:60509060..60510930-chr3:60511428..60512938,2	K562	blood:
15	chr3:60492215..60494697-chr3:60503496..60505338,2	K562	blood:
16	chr3:60509060..60510930-chr3:60511428..60512938,2	K562	blood:
17	chr3:60500352..60502884-chr3:60536251..60537952,2	K562	blood:
18	chr3:60506754..60508368-chr3:60516500..60519417,2	K562	blood:
19	chr3:60475674..60478079-chr3:60479619..60482202,2	K562	blood:
20	chr3:60486499..60489215-chr3:60499142..60502130,2	K562	blood:
21	chr3:60506754..60508368-chr3:60516500..60519417,2	K562	blood:
22	chr3:60502053..60505036-chr3:60509426..60512103,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FEZF2-9	chr3:60521543-60522712	NONHSAT090160

No data

Extended variants
information (count: 941 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:941 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573093202	chr3:60483210-60483211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371241800	chr3:60483268-60483269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79251359	chr3:60483291-60483292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192678134	chr3:60483292-60483293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116005988	chr3:60483311-60483312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528678754	chr3:60483325-60483326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199757535	chr3:60483333-60483334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78456488	chr3:60483338-60483339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6789802	chr3:60483364-60483365	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566810667	chr3:60483382-60483383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113286561	chr3:60483402-60483403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115126692	chr3:60483443-60483444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150859951	chr3:60483444-60483445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538921756	chr3:60483461-60483462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557004847	chr3:60483512-60483513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551245581	chr3:60483532-60483533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575175602	chr3:60483590-60483591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533682122	chr3:60483609-60483610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11708700	chr3:60483613-60483614	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184763090	chr3:60483636-60483637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539962701	chr3:60483672-60483673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28594929	chr3:60483695-60483696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189146155	chr3:60483725-60483726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544886666	chr3:60483739-60483740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181517994	chr3:60483758-60483759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145473551	chr3:60483775-60483776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115782347	chr3:60483784-60483785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140059532	chr3:60483786-60483787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560495401	chr3:60483815-60483816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144014841	chr3:60483820-60483821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114743070	chr3:60483830-60483831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147316624	chr3:60483838-60483839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75793140	chr3:60483876-60483877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73101807	chr3:60483918-60483919	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569018013	chr3:60483919-60483920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79012902	chr3:60483925-60483926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576959249	chr3:60483969-60483970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554240580	chr3:60483993-60483994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566147201	chr3:60483996-60483997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141024524	chr3:60484006-60484007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149864414	chr3:60484055-60484056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144888587	chr3:60484056-60484057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72882138	chr3:60484092-60484093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575002336	chr3:60484094-60484095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556378154	chr3:60484105-60484106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574373591	chr3:60484119-60484120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142103948	chr3:60484133-60484134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560485880	chr3:60484137-60484138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527717412	chr3:60484160-60484161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73101811	chr3:60484167-60484168	Enhancers	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
Cancer	20164919	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60483200-60484000	Enhancers	Brain Germinal Matrix	brain
2	chr3:60483400-60483800	Enhancers	Fetal Lung	lung
3	chr3:60483400-60485000	Enhancers	Fetal Heart	heart
4	chr3:60483600-60484000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:60483600-60484000	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr3:60483600-60484000	Enhancers	Fetal Brain Female	brain
7	chr3:60490200-60491000	Enhancers	Primary B cells from peripheral blood	blood
8	chr3:60499600-60500200	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr3:60499800-60500200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr3:60499800-60501000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr3:60500000-60501000	Enhancers	Fetal Muscle Trunk	muscle
12	chr3:60500200-60500600	Weak transcription	Adipose Nuclei	Adipose
13	chr3:60500600-60500800	Enhancers	Adipose Nuclei	Adipose
14	chr3:60500600-60500800	Enhancers	Right Atrium	heart
15	chr3:60500600-60501000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:60500600-60501000	Enhancers	Right Ventricle	heart
17	chr3:60500600-60501200	Enhancers	Fetal Heart	heart
18	chr3:60500600-60501200	Enhancers	K562	blood
19	chr3:60500800-60501200	Enhancers	Fetal Kidney	kidney
20	chr3:60500800-60501200	Enhancers	Left Ventricle	heart
21	chr3:60500800-60501600	Weak transcription	Right Atrium	heart
22	chr3:60507600-60508200	Enhancers	Fetal Brain Male	brain
23	chr3:60509400-60523400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:60514800-60519000	Weak transcription	Fetal Kidney	kidney
25	chr3:60516200-60516400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:60518200-60519000	Enhancers	Fetal Brain Female	brain
27	chr3:60519000-60519200	Enhancers	Fetal Kidney	kidney
28	chr3:60519200-60522200	Weak transcription	Fetal Kidney	kidney

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