Variant report

Variant	esv1796628
Chromosome Location	chr2:78704271-78719389
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: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	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
2	chr2:78715619..78718403-chr2:78734378..78736993,2	K562	blood:
3	chr2:78687302..78689394-chr2:78702872..78704887,2	K562	blood:
4	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
5	chr2:78716026..78716644-chr5:124520515..124521066,2	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: 634 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:634 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17015375	chr2:78704271-78704272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569849157	chr2:78704277-78704278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184580635	chr2:78704300-78704301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561820651	chr2:78704309-78704310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530454913	chr2:78704317-78704318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550135647	chr2:78704353-78704354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564059749	chr2:78704363-78704364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377193085	chr2:78704381-78704382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533022289	chr2:78704392-78704393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189147263	chr2:78704409-78704410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566282511	chr2:78704438-78704439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370372179	chr2:78704450-78704451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192992567	chr2:78704463-78704464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560663921	chr2:78704519-78704520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549251203	chr2:78704527-78704528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555833569	chr2:78704549-78704550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4479451	chr2:78704560-78704561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574141930	chr2:78704608-78704609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1543140	chr2:78704617-78704618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183832378	chr2:78704619-78704620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537881484	chr2:78704634-78704635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553397862	chr2:78704668-78704669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558157964	chr2:78704677-78704678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188945113	chr2:78704720-78704721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534455783	chr2:78704782-78704783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34890329	chr2:78704822-78704823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113785894	chr2:78704847-78704848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181437112	chr2:78704856-78704857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10205850	chr2:78704866-78704867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1543141	chr2:78704870-78704871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142382582	chr2:78704940-78704941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563802815	chr2:78704945-78704946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62166144	chr2:78704975-78704976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542814506	chr2:78705015-78705016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373315570	chr2:78705016-78705017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543818031	chr2:78705037-78705038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563697270	chr2:78705051-78705052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533059261	chr2:78705058-78705059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75230563	chr2:78705063-78705064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540182287	chr2:78705085-78705086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184764280	chr2:78705113-78705114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529111023	chr2:78705153-78705154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144596510	chr2:78705191-78705192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190775817	chr2:78705217-78705218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547019220	chr2:78705232-78705233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138781016	chr2:78705279-78705280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558907848	chr2:78705287-78705288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4629185	chr2:78705307-78705308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554548923	chr2:78705321-78705322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567923792	chr2:78705323-78705324	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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