Variant report

Variant	nsv997335
Chromosome Location	chr3:68629587-68661747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 494 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368690635	chr3:68646005-68646006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571580300	chr3:68646059-68646060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537204073	chr3:68646064-68646065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557197754	chr3:68646070-68646071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576608352	chr3:68646124-68646125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370296335	chr3:68646151-68646152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555720463	chr3:68646191-68646192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574764834	chr3:68646207-68646208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193294208	chr3:68646211-68646212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572380068	chr3:68646212-68646213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551705377	chr3:68646215-68646216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142870292	chr3:68646218-68646219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375998437	chr3:68646225-68646226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533447191	chr3:68646260-68646261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150623155	chr3:68646327-68646328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528963888	chr3:68646375-68646376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139685637	chr3:68646415-68646416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565788531	chr3:68646433-68646434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528039398	chr3:68646447-68646448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1398071	chr3:68646462-68646463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs79174930	chr3:68646463-68646464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149763836	chr3:68646485-68646486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199813813	chr3:68646498-68646499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112596619	chr3:68646506-68646507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185158459	chr3:68646523-68646524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550786841	chr3:68646554-68646555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190362386	chr3:68646589-68646590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535925410	chr3:68646616-68646617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9857983	chr3:68646617-68646618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs181211639	chr3:68646702-68646703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147957019	chr3:68646709-68646710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557775767	chr3:68646715-68646716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538550195	chr3:68646727-68646728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577906014	chr3:68646730-68646731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185578333	chr3:68646756-68646757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188770280	chr3:68646832-68646833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574124208	chr3:68646839-68646840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9838903	chr3:68646851-68646852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559143706	chr3:68646878-68646879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528191902	chr3:68646895-68646896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9858470	chr3:68646899-68646900	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs56861334	chr3:68646905-68646906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113796748	chr3:68646906-68646907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534172568	chr3:68646935-68646936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141813659	chr3:68646936-68646937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553939304	chr3:68646937-68646938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56875413	chr3:68646962-68646963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529980025	chr3:68646987-68646988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567576661	chr3:68647001-68647002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536028111	chr3:68647024-68647025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68646000-68649000	Weak transcription	Aorta	Aorta
2	chr3:68646800-68647600	Enhancers	Fetal Stomach	stomach
3	chr3:68647000-68647400	Enhancers	Colon Smooth Muscle	Colon
4	chr3:68649000-68649600	Enhancers	Aorta	Aorta
5	chr3:68649400-68649600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:68649600-68652400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:68652200-68652800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:68652400-68653000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:68652800-68657200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:68657200-68658000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell

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