Variant report

Variant	nsv582276
Chromosome Location	chr2:78699428-78718429
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:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
2	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
3	chr2:78716026..78716644-chr5:124520515..124521066,2	MCF-7	breast:
4	chr2:78715619..78718403-chr2:78734378..78736993,2	K562	blood:
5	chr2:78694367..78697060-chr2:78697829..78699693,2	MCF-7	breast:
6	chr2:78695424..78698348-chr2:78698438..78701119,2	K562	blood:
7	chr2:78696080..78698215-chr2:78700355..78703022,2	K562	blood:
8	chr2:78687302..78689394-chr2:78702872..78704887,2	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: 818 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:818 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7606396	chr2:78699428-78699429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533256153	chr2:78699477-78699478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77506292	chr2:78699500-78699501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75795291	chr2:78699504-78699505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372528837	chr2:78699587-78699588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117656725	chr2:78699588-78699589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114325351	chr2:78699602-78699603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569356938	chr2:78699606-78699607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537918531	chr2:78699621-78699622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74884514	chr2:78699628-78699629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200659984	chr2:78699630-78699631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146034853	chr2:78699637-78699638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541660127	chr2:78699690-78699691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77739803	chr2:78699694-78699695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554548745	chr2:78699702-78699703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139960732	chr2:78699704-78699705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62166142	chr2:78699705-78699706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs114906784	chr2:78699716-78699717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575304683	chr2:78699722-78699723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543923027	chr2:78699735-78699736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564205226	chr2:78699737-78699738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532804285	chr2:78699755-78699756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17015360	chr2:78699778-78699779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs141783645	chr2:78699780-78699781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183007085	chr2:78699790-78699791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549176495	chr2:78699802-78699803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188159262	chr2:78699838-78699839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1400133	chr2:78699852-78699853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551633489	chr2:78699855-78699856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564578724	chr2:78699863-78699864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143589179	chr2:78699876-78699877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543760301	chr2:78699893-78699894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34240296	chr2:78699922-78699923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150769312	chr2:78699976-78699977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192939005	chr2:78700013-78700014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574399638	chr2:78700036-78700037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536904067	chr2:78700048-78700049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556717520	chr2:78700058-78700059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183811805	chr2:78700061-78700062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568047905	chr2:78700131-78700132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139828382	chr2:78700136-78700137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527987534	chr2:78700148-78700149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564060650	chr2:78700149-78700150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549543825	chr2:78700151-78700152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577295721	chr2:78700168-78700169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72808888	chr2:78700194-78700195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs369112249	chr2:78700202-78700203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559686879	chr2:78700296-78700297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187446992	chr2:78700308-78700309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542511223	chr2:78700322-78700323	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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