Variant report

Variant	nsv583987
Chromosome Location	chr2:184798945-184802414
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: 119 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548646160	chr2:184799062-184799063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368078534	chr2:184799072-184799073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568464365	chr2:184799109-184799110	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs527589338	chr2:184799140-184799141	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs547332577	chr2:184799161-184799162	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs193002959	chr2:184799162-184799163	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs115627891	chr2:184799238-184799239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184134391	chr2:184799255-184799256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556300857	chr2:184799262-184799263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148395490	chr2:184799325-184799326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377488366	chr2:184799331-184799332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548400660	chr2:184799340-184799341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs826146	chr2:184799363-184799364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554990223	chr2:184799377-184799378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571667626	chr2:184799408-184799409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374189124	chr2:184799413-184799414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201576338	chr2:184799437-184799438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371657548	chr2:184799474-184799475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189199731	chr2:184799487-184799488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181523039	chr2:184799525-184799526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16825236	chr2:184799555-184799556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546118001	chr2:184799622-184799623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563065918	chr2:184799665-184799666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186497782	chr2:184799691-184799692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142565363	chr2:184799754-184799755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562072868	chr2:184799776-184799777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527649482	chr2:184799796-184799797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547690032	chr2:184799813-184799814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369660664	chr2:184799894-184799895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74564210	chr2:184799953-184799954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150947183	chr2:184799959-184799960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs16825242	chr2:184799961-184799962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10497639	chr2:184800006-184800007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140854509	chr2:184800023-184800024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555011421	chr2:184800044-184800045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565359988	chr2:184800045-184800046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190510964	chr2:184800050-184800051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143351151	chr2:184800099-184800100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577509822	chr2:184800118-184800119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556267073	chr2:184800144-184800145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540126194	chr2:184800186-184800187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556800103	chr2:184800237-184800238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7574704	chr2:184800249-184800250	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542356659	chr2:184800272-184800273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373545123	chr2:184800367-184800368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112788771	chr2:184800379-184800380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562134130	chr2:184800381-184800382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146766229	chr2:184800393-184800394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570804090	chr2:184800413-184800414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371717753	chr2:184800456-184800457	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:4 , 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
4	chr2:184802000-184802600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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