Variant report

Variant	nsv10214
Chromosome Location	chr2:205615446-205618100
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	chr2:205608885..205610697-chr2:205614525..205616047,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529757537	chr2:205615459-205615460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534621998	chr2:205615461-205615462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112326522	chr2:205615467-205615468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59875139	chr2:205615472-205615473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370417560	chr2:205615488-205615489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187964453	chr2:205615495-205615496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562919078	chr2:205615501-205615502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556670164	chr2:205615509-205615510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575246434	chr2:205615512-205615513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562096937	chr2:205615537-205615538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193227663	chr2:205615538-205615539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574133109	chr2:205615556-205615557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541768366	chr2:205615557-205615558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560053145	chr2:205615566-205615567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533400690	chr2:205615573-205615574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546401849	chr2:205615584-205615585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545398321	chr2:205615603-205615604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563851052	chr2:205615608-205615609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140188807	chr2:205615610-205615611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114718898	chr2:205615650-205615651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553246453	chr2:205615707-205615708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567349893	chr2:205615741-205615742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149907781	chr2:205615771-205615772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144984943	chr2:205615823-205615824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571190193	chr2:205615828-205615829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184368509	chr2:205615834-205615835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372994162	chr2:205615864-205615865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559561892	chr2:205615950-205615951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189299951	chr2:205615955-205615956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192281456	chr2:205615978-205615979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77794078	chr2:205615993-205615994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548356050	chr2:205615994-205615995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35487412	chr2:205616017-205616018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554621902	chr2:205616040-205616041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184152914	chr2:205616058-205616059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573208513	chr2:205616074-205616075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553731850	chr2:205616088-205616089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578249075	chr2:205616108-205616109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545458198	chr2:205616154-205616155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377513082	chr2:205616168-205616169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563541624	chr2:205616171-205616172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530887075	chr2:205616216-205616217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542773622	chr2:205616222-205616223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115091676	chr2:205616226-205616227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528303740	chr2:205616289-205616290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13409132	chr2:205616346-205616347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs113981037	chr2:205616415-205616416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571250840	chr2:205616446-205616447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532285973	chr2:205616451-205616452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550808660	chr2:205616476-205616477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205611600-205622800	Weak transcription	Fetal Heart	heart
2	chr2:205615200-205618800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:205615200-205618800	Weak transcription	HSMMtube	muscle
4	chr2:205615400-205616400	Weak transcription	Osteobl	bone
5	chr2:205615400-205618400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:205615400-205628600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:205616400-205617200	Enhancers	Osteobl	bone

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