Variant report

Variant	nsv582283
Chromosome Location	chr2:78703558-78717167
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:78715619..78718403-chr2:78734378..78736993,2	K562	blood:
2	chr2:78716026..78716644-chr5:124520515..124521066,2	MCF-7	breast:
3	chr2:78687302..78689394-chr2:78702872..78704887,2	K562	blood:
4	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
5	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: 583 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7580922	chr2:78703558-78703559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553082279	chr2:78703565-78703566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572977773	chr2:78703588-78703589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs118171691	chr2:78703603-78703604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7607586	chr2:78703621-78703622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs17015373	chr2:78703629-78703630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544531450	chr2:78703631-78703632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564766687	chr2:78703632-78703633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578235236	chr2:78703633-78703634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540814272	chr2:78703664-78703665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7607664	chr2:78703670-78703671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs200008554	chr2:78703749-78703750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76915990	chr2:78703782-78703783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191998065	chr2:78703796-78703797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75676355	chr2:78703803-78703804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183386939	chr2:78703812-78703813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187748022	chr2:78703817-78703818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550639253	chr2:78703846-78703847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10172805	chr2:78703863-78703864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539275569	chr2:78703869-78703870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201871657	chr2:78703883-78703884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566638299	chr2:78703972-78703973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535536684	chr2:78704065-78704066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555735027	chr2:78704095-78704096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377209829	chr2:78704104-78704105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575596330	chr2:78704107-78704108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538229168	chr2:78704108-78704109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565684744	chr2:78704149-78704150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369232965	chr2:78704150-78704151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193068974	chr2:78704168-78704169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578244900	chr2:78704183-78704184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75909744	chr2:78704233-78704234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17015375	chr2:78704271-78704272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569849157	chr2:78704277-78704278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184580635	chr2:78704300-78704301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561820651	chr2:78704309-78704310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530454913	chr2:78704317-78704318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550135647	chr2:78704353-78704354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564059749	chr2:78704363-78704364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377193085	chr2:78704381-78704382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533022289	chr2:78704392-78704393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189147263	chr2:78704409-78704410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566282511	chr2:78704438-78704439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370372179	chr2:78704450-78704451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192992567	chr2:78704463-78704464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560663921	chr2:78704519-78704520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549251203	chr2:78704527-78704528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555833569	chr2:78704549-78704550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4479451	chr2:78704560-78704561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574141930	chr2:78704608-78704609	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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