Variant report

Variant	nsv965380
Chromosome Location	chr3:59970574-59976399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 342 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140250475	chr3:59970592-59970593	Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546748333	chr3:59970634-59970635	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs565396127	chr3:59970641-59970642	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs532614161	chr3:59970652-59970653	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs190674799	chr3:59970689-59970690	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs13061330	chr3:59970735-59970736	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs36017586	chr3:59970744-59970745	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs144119178	chr3:59970759-59970760	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs370977963	chr3:59970761-59970762	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs567124923	chr3:59970788-59970789	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs548707127	chr3:59970853-59970854	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs560395234	chr3:59970863-59970864	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs534144554	chr3:59970864-59970865	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs559067615	chr3:59970871-59970872	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs577318265	chr3:59970905-59970906	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs111629612	chr3:59970906-59970907	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs538390225	chr3:59970930-59970931	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs2687899	chr3:59970958-59970959	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192662987	chr3:59970972-59970973	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs560429138	chr3:59970978-59970979	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs184694202	chr3:59970980-59970981	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs2630190	chr3:59970997-59970998	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147316726	chr3:59971002-59971003	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs373850045	chr3:59971028-59971029	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs573060825	chr3:59971036-59971037	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs189044236	chr3:59971041-59971042	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs565026777	chr3:59971053-59971054	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs35147013	chr3:59971059-59971060	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs139918330	chr3:59971062-59971063	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs551136137	chr3:59971078-59971079	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs562957194	chr3:59971091-59971092	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs181481414	chr3:59971116-59971117	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs530061565	chr3:59971143-59971144	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs2630191	chr3:59971146-59971147	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs186615754	chr3:59971164-59971165	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs568094343	chr3:59971183-59971184	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs189450931	chr3:59971203-59971204	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570748778	chr3:59971229-59971230	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs538031399	chr3:59971240-59971241	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs149819496	chr3:59971249-59971250	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs574967190	chr3:59971252-59971253	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs117658911	chr3:59971282-59971283	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs554511651	chr3:59971322-59971323	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs569698577	chr3:59971344-59971345	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs376114731	chr3:59971345-59971346	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs573061236	chr3:59971356-59971357	Enhancers Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs540567472	chr3:59971412-59971413	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs145785365	chr3:59971419-59971420	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs577145138	chr3:59971436-59971437	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs371324345	chr3:59971470-59971471	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS	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
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

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59964400-59970600	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr3:59965600-59974600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr3:59967400-59971400	Weak transcription	Thymus	Thymus
4	chr3:59967400-59974400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr3:59967400-59993000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:59968000-59986600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:59968400-59971400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:59968400-59971800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr3:59968400-59982600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:59969000-59971600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:59969000-59971600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:59969400-59971600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:59969600-59970800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:59970000-59971600	ZNF genes & repeats	Fetal Thymus	thymus
15	chr3:59970000-59971800	Genic enhancers	Primary T cells from cord blood	blood
16	chr3:59970000-59972000	ZNF genes & repeats	Dnd41	blood
17	chr3:59970200-59971000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr3:59970400-59970600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:59970400-59971200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr3:59970600-59971000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr3:59970600-59971600	Enhancers	Primary hematopoietic stem cells	blood
22	chr3:59970600-59972000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:59970800-59971000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
24	chr3:59971000-59971800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr3:59971000-59972000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr3:59971000-59972200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr3:59971200-59971600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr3:59971200-59971600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:59971200-59971600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:59971400-59971600	Active TSS	Monocytes-CD14+_RO01746	blood
31	chr3:59971400-59972000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr3:59971400-59972200	Enhancers	Primary B cells from cord blood	blood
33	chr3:59971400-59972200	Enhancers	Primary B cells from peripheral blood	blood
34	chr3:59971400-59972200	Enhancers	Thymus	Thymus
35	chr3:59971600-59971800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr3:59971600-59972000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr3:59971600-59972000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr3:59971600-59972000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:59971600-59972000	Enhancers	GM12878-XiMat	blood
40	chr3:59971600-59972000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr3:59971600-59972200	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr3:59971600-59972200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:59971600-59972200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:59971600-59972200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:59971600-59974200	Weak transcription	Fetal Thymus	thymus
46	chr3:59971800-59972200	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr3:59971800-59972200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr3:59971800-59972200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr3:59971800-59972200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr3:59972000-59972200	Active TSS	Monocytes-CD14+_RO01746	blood

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