Variant report

Variant	nsv582286
Chromosome Location	chr2:78707767-78719389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:78716026..78716644-chr5:124520515..124521066,2	MCF-7	breast:
2	chr2:78715619..78718403-chr2:78734378..78736993,2	K562	blood:
3	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
4	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-3	chr2:78712920-78712978	NONHSAT071846
2	lnc-LRRTM4-3	chr2:78712920-78712978	NONHSAT071835
3	lnc-LRRTM4-3	chr2:78714968-78715058	NONHSAT071835

No data

Extended variants
information (count: 443 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:443 , 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	rs11681421	chr2:78707767-78707768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566427556	chr2:78707793-78707794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575458410	chr2:78707802-78707803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550323692	chr2:78707825-78707826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557077644	chr2:78707859-78707860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535563689	chr2:78708024-78708025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143160020	chr2:78708052-78708053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182575160	chr2:78708083-78708084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72808901	chr2:78708091-78708092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs77668443	chr2:78708110-78708111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7606063	chr2:78708111-78708112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138577581	chr2:78708142-78708143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189476962	chr2:78708169-78708170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555821457	chr2:78708182-78708183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575976184	chr2:78708280-78708281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180768345	chr2:78708294-78708295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573123296	chr2:78708351-78708352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577021663	chr2:78708397-78708398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545620595	chr2:78708411-78708412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577338147	chr2:78708463-78708464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185245698	chr2:78708492-78708493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528101173	chr2:78708539-78708540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541792248	chr2:78708626-78708627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74261185	chr2:78708637-78708638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143953096	chr2:78708645-78708646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72808902	chr2:78708692-78708693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552659300	chr2:78708704-78708705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2203582	chr2:78708712-78708713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190346830	chr2:78708717-78708718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115457399	chr2:78708720-78708721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181260288	chr2:78708769-78708770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150862505	chr2:78708774-78708775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566942598	chr2:78708947-78708948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541961333	chr2:78708958-78708959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535497900	chr2:78708972-78708973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555706079	chr2:78709002-78709003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569575175	chr2:78709091-78709092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72915826	chr2:78709191-78709192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371315650	chr2:78709197-78709198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530819756	chr2:78709215-78709216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558479904	chr2:78709278-78709279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545034148	chr2:78709304-78709305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563114592	chr2:78709329-78709330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530866762	chr2:78709358-78709359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76614631	chr2:78709359-78709360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552825273	chr2:78709367-78709368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572859413	chr2:78709370-78709371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541479291	chr2:78709380-78709381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561297027	chr2:78709392-78709393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530418185	chr2:78709398-78709399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78683400-78742200	Weak transcription	HepG2	liver
2	chr2:78713400-78713800	Active TSS	Brain Angular Gyrus	brain
3	chr2:78713400-78713800	Active TSS	Brain Cingulate Gyrus	brain
4	chr2:78713400-78713800	Active TSS	Brain Substantia Nigra	brain
5	chr2:78713400-78714000	Active TSS	Brain Anterior Caudate	brain
6	chr2:78713600-78713800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr2:78713600-78714000	Active TSS	Hela-S3	cervix
8	chr2:78713800-78714000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:78716600-78717400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:78716600-78718200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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