Variant report

Variant	nsv1009260
Chromosome Location	chr3:80305374-80417311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:80289338..80291099-chr3:80331283..80332821,2	MCF-7	breast:
2	chr3:80398298..80401039-chr3:80402529..80404343,2	K562	blood:
3	chr3:80333110..80334776-chr3:80341368..80343590,2	MCF-7	breast:
4	chr3:80349220..80349873-chr3:80357584..80358397,2	MCF-7	breast:
5	chr3:80349220..80349873-chr3:80357584..80358397,2	MCF-7	breast:
6	chr3:80398298..80401039-chr3:80402529..80404343,2	K562	blood:
7	chr3:80333110..80334776-chr3:80341368..80343590,2	MCF-7	breast:

Extended variants
information (count: 839 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:839 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554589611	chr3:80308843-80308844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528680058	chr3:80308871-80308872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs55920930	chr3:80308927-80308928	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192958047	chr3:80308977-80308978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200554655	chr3:80309000-80309001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78668589	chr3:80309003-80309004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546053792	chr3:80309007-80309008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142402650	chr3:80309008-80309009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573243900	chr3:80309029-80309030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541851125	chr3:80309074-80309075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188206116	chr3:80309094-80309095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529975389	chr3:80309107-80309108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192435179	chr3:80309123-80309124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563387055	chr3:80309124-80309125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532356488	chr3:80309133-80309134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552050864	chr3:80309177-80309178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149087622	chr3:80309198-80309199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35034376	chr3:80309201-80309202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs34019575	chr3:80309213-80309214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146890812	chr3:80309218-80309219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140710413	chr3:80309223-80309224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568072658	chr3:80309244-80309245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144005199	chr3:80309254-80309255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369037790	chr3:80309275-80309276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536999759	chr3:80309276-80309277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571269861	chr3:80309288-80309289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114604953	chr3:80309311-80309312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571023507	chr3:80309316-80309317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146414902	chr3:80309350-80309351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553272836	chr3:80309372-80309373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369300689	chr3:80309395-80309396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4856280	chr3:80309400-80309401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs386662845	chr3:80309405-80309406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74716899	chr3:80309406-80309407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544168710	chr3:80309455-80309456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373362313	chr3:80309457-80309458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536180817	chr3:80309492-80309493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4856281	chr3:80309496-80309497	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546006252	chr3:80309507-80309508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559279071	chr3:80309527-80309528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140919531	chr3:80309538-80309539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548310185	chr3:80309551-80309552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376033273	chr3:80309584-80309585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75597619	chr3:80309607-80309608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530537329	chr3:80309612-80309613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150103040	chr3:80309649-80309650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138587986	chr3:80309694-80309695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539743531	chr3:80309707-80309708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77608423	chr3:80309745-80309746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566959495	chr3:80309748-80309749	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80308800-80310400	Enhancers	Fetal Lung	lung
2	chr3:80325800-80326000	Enhancers	Fetal Intestine Small	intestine
3	chr3:80326600-80326800	Enhancers	Fetal Intestine Small	intestine
4	chr3:80327200-80327600	Active TSS	Fetal Intestine Large	intestine
5	chr3:80334600-80334800	Enhancers	Fetal Kidney	kidney
6	chr3:80334600-80335000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:80334800-80335200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:80334800-80335200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:80334800-80335200	Flanking Active TSS	Fetal Kidney	kidney
10	chr3:80334800-80335200	Active TSS	Ovary	ovary
11	chr3:80335200-80335600	Enhancers	Fetal Kidney	kidney
12	chr3:80337600-80337800	Enhancers	Fetal Kidney	kidney
13	chr3:80341800-80342000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr3:80342000-80346200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr3:80343400-80344000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:80346200-80347400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr3:80346800-80347600	Enhancers	Fetal Lung	lung
18	chr3:80353600-80354000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr3:80356000-80356400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:80356400-80357200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr3:80356800-80357200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr3:80357200-80357600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:80357200-80357800	Enhancers	Placenta	Placenta
24	chr3:80358600-80360000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr3:80399800-80401000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:80400000-80400200	Enhancers	Fetal Intestine Small	intestine
27	chr3:80400800-80401000	Enhancers	Fetal Intestine Small	intestine
28	chr3:80404200-80404400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:80404200-80405200	Enhancers	NHEK	skin
30	chr3:80404400-80404800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:80404800-80405800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:80405200-80406600	Weak transcription	NHEK	skin
33	chr3:80405800-80406000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:80406000-80406800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:80406600-80407400	Enhancers	NHEK	skin
36	chr3:80406800-80407400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:80416000-80416400	Enhancers	Fetal Brain Male	brain
38	chr3:80416200-80416800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:80416400-80418600	Weak transcription	Fetal Brain Male	brain

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