Variant report

Variant	nsv961025
Chromosome Location	chr2:31910984-31922498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31909066..31910912-chr2:31917337..31919899,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DPY30-3	chr2:31911772-31911807	NONHSAT069950

Extended variants
information (count: 449 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576932002	chr2:31910989-31910990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs546079487	chr2:31910991-31910992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs559344988	chr2:31911027-31911028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs528384934	chr2:31911047-31911048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541892854	chr2:31911084-31911085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs7589321	chr2:31911109-31911110	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs373176790	chr2:31911149-31911150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs376332991	chr2:31911212-31911213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs192036050	chr2:31911228-31911229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs571046686	chr2:31911290-31911291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs531370525	chr2:31911301-31911302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs184182633	chr2:31911302-31911303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs186618535	chr2:31911304-31911305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs567095807	chr2:31911305-31911306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs542698596	chr2:31911312-31911313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs535744666	chr2:31911329-31911330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs191462243	chr2:31911351-31911352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs549797283	chr2:31911401-31911402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568876585	chr2:31911416-31911417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs537969495	chr2:31911417-31911418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs557915618	chr2:31911448-31911449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs576975109	chr2:31911471-31911472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs545719042	chr2:31911504-31911505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs72855866	chr2:31911538-31911539	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs183805983	chr2:31911567-31911568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs571612689	chr2:31911596-31911597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs187041069	chr2:31911643-31911644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs575704824	chr2:31911736-31911737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs546543991	chr2:31911751-31911752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs141486540	chr2:31911800-31911801	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
31	rs530491954	chr2:31911805-31911806	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs72855867	chr2:31911899-31911900	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs193036164	chr2:31911931-31911932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs563985215	chr2:31911940-31911941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs371153956	chr2:31911977-31911978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs150449838	chr2:31912006-31912007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs374297556	chr2:31912065-31912066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs185246217	chr2:31912076-31912077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs376069877	chr2:31912082-31912083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs529579472	chr2:31912083-31912084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs138508358	chr2:31912139-31912140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs144086406	chr2:31912148-31912149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs555445166	chr2:31912159-31912160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs369353709	chr2:31912160-31912161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs806584	chr2:31912164-31912165	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551742042	chr2:31912167-31912168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs571696897	chr2:31912298-31912299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs35076839	chr2:31912304-31912305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs534276992	chr2:31912307-31912308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs552925405	chr2:31912323-31912324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31908400-31924200	ZNF genes & repeats	Liver	Liver
2	chr2:31914000-31919200	Weak transcription	Fetal Heart	heart
3	chr2:31917200-31920600	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr2:31917800-31920000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr2:31917800-31920200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr2:31918800-31919200	ZNF genes & repeats	Aorta	Aorta
7	chr2:31918800-31919200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr2:31918800-31919400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:31919000-31919600	ZNF genes & repeats	Brain Anterior Caudate	brain
10	chr2:31919200-31919600	Active TSS	Fetal Heart	heart
11	chr2:31919200-31920200	ZNF genes & repeats	Brain Substantia Nigra	brain

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