Variant report

Variant	nsv582275
Chromosome Location	chr2:78691068-78719389
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:11)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:78687302..78689394-chr2:78702872..78704887,2	K562	blood:
2	chr2:78695424..78698348-chr2:78698438..78701119,2	K562	blood:
3	chr2:78696080..78698215-chr2:78700355..78703022,2	K562	blood:
4	chr2:78696080..78698215-chr2:78700355..78703022,2	K562	blood:
5	chr2:78716026..78716644-chr5:124520515..124521066,2	MCF-7	breast:
6	chr2:78695424..78698348-chr2:78698438..78701119,2	K562	blood:
7	chr2:78694367..78697060-chr2:78697829..78699693,2	MCF-7	breast:
8	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
9	chr2:78715619..78718403-chr2:78734378..78736993,2	K562	blood:
10	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
11	chr2:78694367..78697060-chr2:78697829..78699693,2	MCF-7	breast:

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

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

No data

Extended variants
information (count: 1201 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1201 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10209274	chr2:78691068-78691069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554585770	chr2:78691069-78691070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574810221	chr2:78691085-78691086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13391526	chr2:78691088-78691089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs144631317	chr2:78691110-78691111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182286530	chr2:78691124-78691125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186131547	chr2:78691139-78691140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559631507	chr2:78691152-78691153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528563930	chr2:78691158-78691159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548313424	chr2:78691170-78691171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368658625	chr2:78691190-78691191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370887952	chr2:78691230-78691231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148475242	chr2:78691303-78691304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531118605	chr2:78691341-78691342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548447776	chr2:78691390-78691391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190987105	chr2:78691410-78691411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181312056	chr2:78691539-78691540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10197523	chr2:78691556-78691557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565667777	chr2:78691577-78691578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142633193	chr2:78691602-78691603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554624303	chr2:78691639-78691640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146483239	chr2:78691657-78691658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62166138	chr2:78691676-78691677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557339159	chr2:78691725-78691726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140635659	chr2:78691743-78691744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78521319	chr2:78691787-78691788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559469534	chr2:78691789-78691790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185527110	chr2:78691859-78691860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117751522	chr2:78691872-78691873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146567565	chr2:78691893-78691894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530857515	chr2:78691902-78691903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35677965	chr2:78691948-78691949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550548873	chr2:78691962-78691963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548590801	chr2:78691988-78691989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34802589	chr2:78692026-78692027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140949015	chr2:78692063-78692064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533653371	chr2:78692067-78692068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546902257	chr2:78692087-78692088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190732761	chr2:78692111-78692112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567021605	chr2:78692139-78692140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62166139	chr2:78692218-78692219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548262316	chr2:78692266-78692267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568159689	chr2:78692269-78692270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537084049	chr2:78692291-78692292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367981636	chr2:78692343-78692344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556981316	chr2:78692398-78692399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115789951	chr2:78692399-78692400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150187515	chr2:78692486-78692487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182923147	chr2:78692493-78692494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572945584	chr2:78692495-78692496	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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