Variant report

Variant	nsv519729
Chromosome Location	chr3:60062654-60064296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17062101	chr3:60062654-60062655	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149027143	chr3:60062665-60062666	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs2630187	chr3:60062698-60062699	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549143363	chr3:60062699-60062700	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs113787810	chr3:60062733-60062734	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs572488489	chr3:60062743-60062744	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535118150	chr3:60062748-60062749	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs553405699	chr3:60062754-60062755	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs11324331	chr3:60062795-60062796	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs61184537	chr3:60062800-60062801	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs578040296	chr3:60062830-60062831	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs539363213	chr3:60062870-60062871	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs557398679	chr3:60062875-60062876	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs575879911	chr3:60062883-60062884	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs116192247	chr3:60062898-60062899	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs561531817	chr3:60062909-60062910	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs192686482	chr3:60062911-60062912	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs6807325	chr3:60062939-60062940	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558938234	chr3:60062961-60062962	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs374576377	chr3:60062968-60062969	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs532736816	chr3:60062977-60062978	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs551331901	chr3:60062993-60062994	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs73093941	chr3:60062997-60062998	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs530824600	chr3:60063001-60063002	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548953296	chr3:60063059-60063060	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567420683	chr3:60063077-60063078	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34595821	chr3:60063079-60063080	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13063683	chr3:60063105-60063106	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550410381	chr3:60063127-60063128	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2736768	chr3:60063129-60063130	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146632735	chr3:60063149-60063150	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141382110	chr3:60063171-60063172	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531148724	chr3:60063174-60063175	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539070279	chr3:60063198-60063199	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557314947	chr3:60063207-60063208	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183185558	chr3:60063217-60063218	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs3845976	chr3:60063219-60063220	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs554876050	chr3:60063238-60063239	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs5849324	chr3:60063254-60063255	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573068591	chr3:60063259-60063260	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114174134	chr3:60063262-60063263	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs397824979	chr3:60063263-60063264	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75016622	chr3:60063265-60063266	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552675714	chr3:60063277-60063278	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145109072	chr3:60063321-60063322	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2366953	chr3:60063338-60063339	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs138942380	chr3:60063363-60063364	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530716955	chr3:60063365-60063366	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35818352	chr3:60063383-60063384	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542865105	chr3:60063385-60063386	Weak transcription Flanking Active TSS Active TSS 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
Cancer	20164919	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Glioblastoma multiforme	21569311	CNVD
Acute lymphoblastic leukemia	19100363	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60051800-60063000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:60059800-60064800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:60061000-60064000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr3:60061400-60062800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:60061400-60063400	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr3:60061600-60062800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:60061600-60063000	Enhancers	Primary B cells from cord blood	blood
8	chr3:60061600-60063200	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr3:60061800-60063000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr3:60061800-60064200	Weak transcription	Fetal Thymus	thymus
11	chr3:60061800-60066400	Weak transcription	Brain Substantia Nigra	brain
12	chr3:60061800-60068400	Flanking Active TSS	Dnd41	blood
13	chr3:60062200-60063200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr3:60062400-60062800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:60062400-60063000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:60062400-60063200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:60062400-60064600	Weak transcription	Thymus	Thymus
18	chr3:60062400-60065200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:60062400-60066200	Weak transcription	Stomach Mucosa	stomach
20	chr3:60062400-60066400	Weak transcription	Brain Anterior Caudate	brain
21	chr3:60062400-60066400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:60062600-60062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr3:60062600-60063600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr3:60062800-60063400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:60062800-60064800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:60063000-60063200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:60063000-60063800	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr3:60063000-60066000	Weak transcription	Primary B cells from cord blood	blood
29	chr3:60063200-60063400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr3:60063200-60063600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr3:60063200-60063600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr3:60063200-60063600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr3:60063400-60063800	Active TSS	Primary T cells from cord blood	blood
34	chr3:60063400-60064000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr3:60063400-60064000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr3:60063400-60066600	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr3:60063600-60063800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr3:60063600-60064000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr3:60063600-60065000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:60063600-60066000	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr3:60063600-60066800	Active TSS	Primary T cells fromperipheralblood	blood
42	chr3:60063800-60064200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr3:60063800-60066400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr3:60063800-60068000	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr3:60064000-60064200	Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr3:60064000-60064400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr3:60064000-60064400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr3:60064200-60064400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr3:60064200-60064600	Active TSS	Fetal Thymus	thymus
50	chr3:60064200-60066200	Active TSS	Primary T killer memory cells from peripheral blood	blood

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