Variant report

Variant	nsv978953
Chromosome Location	chr2:177521059-177522659
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:177520133..177522867-chr2:177524525..177526296,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTX2-1	chr2:177520964-177521500	l_1997_chr2:177465228-177521692_thyroid
2	lnc-MTX2-1	chr2:177521514-177521692	l_1997_chr2:177465228-177521692_thyroid

Extended variants
information (count: 93 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368486045	chr2:177521064-177521065	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs183074783	chr2:177521134-177521135	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs143464115	chr2:177521148-177521149	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs200215942	chr2:177521151-177521152	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs200970984	chr2:177521152-177521153	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs377039082	chr2:177521153-177521154	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs139274995	chr2:177521160-177521161	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs531126897	chr2:177521177-177521178	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs369585581	chr2:177521183-177521184	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs573477139	chr2:177521195-177521196	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs200342374	chr2:177521203-177521204	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs80017883	chr2:177521204-177521205	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs62172809	chr2:177521208-177521209	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs62172810	chr2:177521210-177521211	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs59583711	chr2:177521212-177521213	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs62172811	chr2:177521214-177521215	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs62172812	chr2:177521218-177521219	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs62172813	chr2:177521223-177521224	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs62172814	chr2:177521224-177521225	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs201614171	chr2:177521225-177521226	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs60684124	chr2:177521228-177521229	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs62172815	chr2:177521232-177521233	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs60520517	chr2:177521233-177521234	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs62172816	chr2:177521236-177521237	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs62172817	chr2:177521238-177521239	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs375134793	chr2:177521240-177521241	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs60145525	chr2:177521241-177521242	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs62172818	chr2:177521242-177521243	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs76403566	chr2:177521245-177521246	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs62172819	chr2:177521246-177521247	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs369616782	chr2:177521248-177521249	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs60727722	chr2:177521249-177521250	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs62172820	chr2:177521252-177521253	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs376006330	chr2:177521256-177521257	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs567500423	chr2:177521258-177521259	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs61477301	chr2:177521259-177521260	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs369312217	chr2:177521260-177521261	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs186303437	chr2:177521264-177521265	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs67528511	chr2:177521291-177521292	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs571724311	chr2:177521299-177521300	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs16864167	chr2:177521334-177521335	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs191053070	chr2:177521426-177521427	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs548057582	chr2:177521436-177521437	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs566256517	chr2:177521450-177521451	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs4894189	chr2:177521514-177521515	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs369890642	chr2:177521553-177521554	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs554949235	chr2:177521619-177521620	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs150452883	chr2:177521622-177521623	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs13000006	chr2:177521623-177521624	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs72930221	chr2:177521630-177521631	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177516200-177536400	Weak transcription	Ovary	ovary
2	chr2:177517200-177521800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:177519000-177522200	Weak transcription	Fetal Kidney	kidney
4	chr2:177519400-177521800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:177521800-177522000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:177521800-177522200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:177522200-177524800	Enhancers	Fetal Kidney	kidney

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