Variant report

Variant	esv2763648
Chromosome Location	chr2:78668935-78736009
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:13)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

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

(count:6 , 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
4	lnc-REG1B-7	chr2:78678545-78678570	NONHSAT071849
5	lnc-LRRTM4-3	chr2:78683574-78683857	NONHSAT071835
6	lnc-REG1B-7	chr2:78679696-78680040	NONHSAT071849

No data

Extended variants
information (count: 2811 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2811 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2861610	chr2:78668935-78668936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575321376	chr2:78668937-78668938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367561745	chr2:78668938-78668939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572933089	chr2:78668951-78668952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77113888	chr2:78668999-78669000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563919809	chr2:78669013-78669014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10172887	chr2:78669016-78669017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376783436	chr2:78669039-78669040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375417705	chr2:78669057-78669058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78270730	chr2:78669075-78669076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558613773	chr2:78669127-78669128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7571685	chr2:78669170-78669171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs375042151	chr2:78669179-78669180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182666353	chr2:78669184-78669185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187656049	chr2:78669204-78669205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368727630	chr2:78669205-78669206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565797562	chr2:78669250-78669251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562599216	chr2:78669276-78669277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191992406	chr2:78669309-78669310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113299871	chr2:78669334-78669335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551403494	chr2:78669342-78669343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571535953	chr2:78669483-78669484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138625156	chr2:78669496-78669497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80073178	chr2:78669555-78669556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565987762	chr2:78669609-78669610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150887043	chr2:78669677-78669678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562782456	chr2:78669765-78669766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183877449	chr2:78669798-78669799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536800833	chr2:78669808-78669809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530350913	chr2:78669819-78669820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147398847	chr2:78669857-78669858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537927309	chr2:78669879-78669880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557766195	chr2:78669888-78669889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529900912	chr2:78669894-78669895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60239279	chr2:78669899-78669900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs560149154	chr2:78669918-78669919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139175606	chr2:78669920-78669921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556737345	chr2:78669926-78669927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188931220	chr2:78669928-78669929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77475154	chr2:78669982-78669983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562336928	chr2:78670014-78670015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548343631	chr2:78670029-78670030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60704835	chr2:78670049-78670050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545454718	chr2:78670053-78670054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565305256	chr2:78670066-78670067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527653360	chr2:78670091-78670092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143109122	chr2:78670099-78670100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567910689	chr2:78670173-78670174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74261181	chr2:78670205-78670206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550434526	chr2:78670208-78670209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78645400-78671000	Weak transcription	HepG2	liver
2	chr2:78671000-78672200	ZNF genes & repeats	HepG2	liver
3	chr2:78672600-78673800	Weak transcription	HepG2	liver
4	chr2:78673800-78674000	ZNF genes & repeats	HepG2	liver
5	chr2:78674000-78682800	Weak transcription	HepG2	liver
6	chr2:78676200-78676600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:78676600-78676800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:78676800-78677200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:78677400-78678600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:78680800-78682400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:78682400-78683800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:78682800-78683400	Enhancers	HepG2	liver
13	chr2:78683400-78742200	Weak transcription	HepG2	liver
14	chr2:78713400-78713800	Active TSS	Brain Angular Gyrus	brain
15	chr2:78713400-78713800	Active TSS	Brain Cingulate Gyrus	brain
16	chr2:78713400-78713800	Active TSS	Brain Substantia Nigra	brain
17	chr2:78713400-78714000	Active TSS	Brain Anterior Caudate	brain
18	chr2:78713600-78713800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr2:78713600-78714000	Active TSS	Hela-S3	cervix
20	chr2:78713800-78714000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr2:78716600-78717400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:78716600-78718200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:78721600-78722800	Enhancers	K562	blood

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