Variant report

Variant	nsv582274
Chromosome Location	chr2:78684017-78739923
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:14)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:78687302..78689394-chr2:78702872..78704887,2	K562	blood:
2	chr2:78716026..78716644-chr5:124520515..124521066,2	MCF-7	breast:
3	chr2:78695424..78698348-chr2:78698438..78701119,2	K562	blood:
4	chr2:78694367..78697060-chr2:78697829..78699693,2	MCF-7	breast:
5	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
6	chr2:78738806..78741655-chrX:153658032..153660466,2	MCF-7	breast:
7	chr2:78696080..78698215-chr2:78700355..78703022,2	K562	blood:
8	chr2:78687302..78689394-chr2:78702872..78704887,2	K562	blood:
9	chr2:78696080..78698215-chr2:78700355..78703022,2	K562	blood:
10	chr2:78694367..78697060-chr2:78697829..78699693,2	MCF-7	breast:
11	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
12	chr2:78695424..78698348-chr2:78698438..78701119,2	K562	blood:
13	chr2:78715619..78718403-chr2:78734378..78736993,2	K562	blood:
14	chr2:78715619..78718403-chr2:78734378..78736993,2	K562	blood:

(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

Variant related genes	Relation type
ENSG00000071553	chromatin interactions

Extended variants
information (count: 2375 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2375 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13426270	chr2:78684017-78684018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571800820	chr2:78684052-78684053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559026352	chr2:78684073-78684074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183144082	chr2:78684115-78684116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532861080	chr2:78684135-78684136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187441199	chr2:78684154-78684155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530021362	chr2:78684196-78684197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113469124	chr2:78684254-78684255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372582995	chr2:78684261-78684262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6732618	chr2:78684272-78684273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs79485859	chr2:78684288-78684289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116911125	chr2:78684303-78684304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78968172	chr2:78684328-78684329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566218042	chr2:78684329-78684330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534791727	chr2:78684334-78684335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138847412	chr2:78684363-78684364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192678403	chr2:78684382-78684383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537759835	chr2:78684418-78684419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557187068	chr2:78684449-78684450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577118412	chr2:78684472-78684473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113937331	chr2:78684481-78684482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6761669	chr2:78684500-78684501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs141976789	chr2:78684517-78684518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184887918	chr2:78684583-78684584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553137617	chr2:78684588-78684589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530744281	chr2:78684598-78684599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572137284	chr2:78684630-78684631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12713960	chr2:78684675-78684676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560951443	chr2:78684721-78684722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13006750	chr2:78684774-78684775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543701628	chr2:78684789-78684790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145625497	chr2:78684812-78684813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189501307	chr2:78684816-78684817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532438270	chr2:78685015-78685016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552434613	chr2:78685020-78685021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62166137	chr2:78685044-78685045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs528601843	chr2:78685049-78685050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548353065	chr2:78685074-78685075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568445711	chr2:78685117-78685118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537099071	chr2:78685173-78685174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546811237	chr2:78685203-78685204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550553077	chr2:78685262-78685263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570846221	chr2:78685306-78685307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539720207	chr2:78685340-78685341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138495414	chr2:78685383-78685384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571808195	chr2:78685482-78685483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369650863	chr2:78685518-78685519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372195389	chr2:78685519-78685520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376689735	chr2:78685523-78685524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34484527	chr2:78685531-78685532	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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