Variant report

Variant	nsv583975
Chromosome Location	chr2:184797946-184801710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF804A-2	chr2:184799100-184799228	XLOC_001779
2	lnc-ZNF804A-2	chr2:184799099-184799228	NONHSAT075946

Extended variants
information (count: 126 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1351908	chr2:184797946-184797947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76466769	chr2:184797981-184797982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532644195	chr2:184798034-184798035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560497412	chr2:184798050-184798051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527968242	chr2:184798101-184798102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552351055	chr2:184798125-184798126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373864839	chr2:184798199-184798200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77196775	chr2:184798204-184798205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563854627	chr2:184798253-184798254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184282614	chr2:184798342-184798343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79667833	chr2:184798374-184798375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534073500	chr2:184798429-184798430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553981747	chr2:184798464-184798465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115131970	chr2:184798466-184798467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539526771	chr2:184798504-184798505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77165774	chr2:184798550-184798551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567154032	chr2:184798568-184798569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144240639	chr2:184798572-184798573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16825231	chr2:184798593-184798594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs571346242	chr2:184798613-184798614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574833441	chr2:184798619-184798620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147356499	chr2:184798678-184798679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560748656	chr2:184798681-184798682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs826147	chr2:184798699-184798700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs559514906	chr2:184798718-184798719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546301664	chr2:184798786-184798787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562998470	chr2:184798810-184798811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34218658	chr2:184798815-184798816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528612246	chr2:184798822-184798823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189581557	chr2:184798861-184798862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377439959	chr2:184798864-184798865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548646160	chr2:184799062-184799063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368078534	chr2:184799072-184799073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568464365	chr2:184799109-184799110	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs527589338	chr2:184799140-184799141	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs547332577	chr2:184799161-184799162	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs193002959	chr2:184799162-184799163	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs115627891	chr2:184799238-184799239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184134391	chr2:184799255-184799256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556300857	chr2:184799262-184799263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148395490	chr2:184799325-184799326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377488366	chr2:184799331-184799332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548400660	chr2:184799340-184799341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs826146	chr2:184799363-184799364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs554990223	chr2:184799377-184799378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571667626	chr2:184799408-184799409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374189124	chr2:184799413-184799414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201576338	chr2:184799437-184799438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371657548	chr2:184799474-184799475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189199731	chr2:184799487-184799488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Intellectual disability	22102821	CNVD
Autism	18522746	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184793000-184809000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:184800200-184800400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:184800400-184802000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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