Variant report

Variant	nsv582288
Chromosome Location	chr2:78710320-78720632
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	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
3	chr2:78715619..78718403-chr2:78734378..78736993,2	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	chr2:78714968-78715058	NONHSAT071835
3	lnc-LRRTM4-3	chr2:78712920-78712978	NONHSAT071835

No data

Extended variants
information (count: 420 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:420 , 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	rs2861613	chr2:78710320-78710321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537470827	chr2:78710333-78710334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540174806	chr2:78710343-78710344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577868619	chr2:78710357-78710358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147259327	chr2:78710400-78710401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189769491	chr2:78710473-78710474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560183770	chr2:78710573-78710574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375245947	chr2:78710603-78710604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74903877	chr2:78710610-78710611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182316802	chr2:78710724-78710725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74830132	chr2:78710788-78710789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17015382	chr2:78710833-78710834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs565240401	chr2:78710835-78710836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527673465	chr2:78710883-78710884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557688414	chr2:78710906-78710907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142254582	chr2:78710918-78710919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536466955	chr2:78710938-78710939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577231102	chr2:78710944-78710945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186584411	chr2:78710976-78710977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191870840	chr2:78711016-78711017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571266886	chr2:78711025-78711026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533531716	chr2:78711120-78711121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374758873	chr2:78711168-78711169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182971171	chr2:78711170-78711171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368609960	chr2:78711171-78711172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369365782	chr2:78711187-78711188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188706346	chr2:78711260-78711261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542863757	chr2:78711262-78711263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116010055	chr2:78711271-78711272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150910527	chr2:78711300-78711301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545556496	chr2:78711372-78711373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541108237	chr2:78711376-78711377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371348710	chr2:78711383-78711384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541034092	chr2:78711399-78711400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192814762	chr2:78711401-78711402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1516249	chr2:78711404-78711405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1516248	chr2:78711422-78711423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs185781002	chr2:78711441-78711442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532565107	chr2:78711445-78711446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10181596	chr2:78711465-78711466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571239154	chr2:78711489-78711490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376062818	chr2:78711494-78711495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150046401	chr2:78711550-78711551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559445493	chr2:78711578-78711579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190516631	chr2:78711587-78711588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374372784	chr2:78711603-78711604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567567704	chr2:78711616-78711617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536508938	chr2:78711641-78711642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556485541	chr2:78711684-78711685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576348810	chr2:78711693-78711694	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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