Variant report

Variant	nsv1001534
Chromosome Location	chr2:78702064-78735997
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:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:78696080..78698215-chr2:78700355..78703022,2	K562	blood:
2	chr2:78687302..78689394-chr2:78702872..78704887,2	K562	blood:
3	chr2:78716026..78716644-chr5:124520515..124521066,2	MCF-7	breast:
4	chr2:78715619..78718403-chr2:78734378..78736993,2	K562	blood:
5	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
6	chr2:78715619..78718403-chr2:78734378..78736993,2	K562	blood:
7	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: 1499 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1499 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538626515	chr2:78702073-78702074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76788607	chr2:78702121-78702122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17581415	chr2:78702154-78702155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143342885	chr2:78702184-78702185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141177318	chr2:78702191-78702192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541249562	chr2:78702227-78702228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75202422	chr2:78702262-78702263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188891032	chr2:78702281-78702282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72808892	chr2:78702349-78702350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs563626988	chr2:78702355-78702356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532579972	chr2:78702371-78702372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181898436	chr2:78702388-78702389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559650797	chr2:78702427-78702428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77395457	chr2:78702454-78702455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186066960	chr2:78702479-78702480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568590827	chr2:78702491-78702492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544014524	chr2:78702503-78702504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537243728	chr2:78702525-78702526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549885584	chr2:78702550-78702551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569632245	chr2:78702552-78702553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142620190	chr2:78702554-78702555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555073556	chr2:78702563-78702564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59189165	chr2:78702566-78702567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10169340	chr2:78702572-78702573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs75434549	chr2:78702623-78702624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17015366	chr2:78702625-78702626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574624360	chr2:78702644-78702645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10181697	chr2:78702648-78702649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs370543416	chr2:78702655-78702656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577247522	chr2:78702681-78702682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368357938	chr2:78702694-78702695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545817713	chr2:78702697-78702698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559291850	chr2:78702706-78702707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557283694	chr2:78702707-78702708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190873046	chr2:78702709-78702710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562232759	chr2:78702752-78702753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74476309	chr2:78702791-78702792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531166281	chr2:78702845-78702846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528477787	chr2:78702859-78702860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373438424	chr2:78702861-78702862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539289149	chr2:78702877-78702878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550871194	chr2:78702911-78702912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557930272	chr2:78702919-78702920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182684041	chr2:78702935-78702936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569753262	chr2:78702982-78702983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72915823	chr2:78703007-78703008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs185902738	chr2:78703012-78703013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72808894	chr2:78703023-78703024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs534598045	chr2:78703042-78703043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554891538	chr2:78703055-78703056	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:11 , 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
11	chr2:78721600-78722800	Enhancers	K562	blood

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