Variant report

Variant	nsv1001913
Chromosome Location	chr2:77976686-77991602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 288 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188300114	chr2:77976689-77976690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540264479	chr2:77976695-77976696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572207228	chr2:77976697-77976698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569176035	chr2:77976702-77976703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112457659	chr2:77976707-77976708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150250886	chr2:77976714-77976715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72928099	chr2:77976760-77976761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs377206339	chr2:77976763-77976764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191607049	chr2:77976789-77976790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112624112	chr2:77976792-77976793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138860420	chr2:77976793-77976794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546302098	chr2:77976794-77976795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370195413	chr2:77976841-77976842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372582056	chr2:77976842-77976843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548541544	chr2:77976923-77976924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566313062	chr2:77976927-77976928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561943428	chr2:77976951-77976952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183747764	chr2:77976952-77976953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550828623	chr2:77976961-77976962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76546211	chr2:77977064-77977065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375280845	chr2:77977066-77977067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12995679	chr2:77977067-77977068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57766699	chr2:77977124-77977125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534040920	chr2:77977131-77977132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558598171	chr2:77977136-77977137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34571267	chr2:77977141-77977142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76154619	chr2:77977148-77977149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189979682	chr2:77977171-77977172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565677723	chr2:77977205-77977206	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs181197361	chr2:77977209-77977210	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs187049461	chr2:77977230-77977231	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs189845452	chr2:77977260-77977261	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs4538235	chr2:77977262-77977263	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574666890	chr2:77977315-77977316	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs537361147	chr2:77977317-77977318	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs556282480	chr2:77977318-77977319	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs569429071	chr2:77977385-77977386	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566892599	chr2:77977393-77977394	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561940578	chr2:77977398-77977399	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs114048975	chr2:77977426-77977427	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs141237560	chr2:77977429-77977430	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs61333797	chr2:77977433-77977434	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs115866683	chr2:77977465-77977466	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs77338857	chr2:77977506-77977507	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs4266048	chr2:77977512-77977513	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs530980672	chr2:77977550-77977551	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs74790821	chr2:77977555-77977556	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs564398217	chr2:77977563-77977564	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs533666020	chr2:77977577-77977578	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs560684267	chr2:77977587-77977588	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77975200-77980800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:77977200-77977600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:77979400-77980000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:77980000-77980800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:77980400-77980600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:77980600-77980800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr2:77980600-77981400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:77980600-77981400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr2:77980600-77981400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:77980600-77981400	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr2:77980600-77981400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr2:77980600-77981600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr2:77980600-77981600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr2:77980800-77981200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr2:77980800-77981400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:77980800-77981400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr2:77980800-77981400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:77980800-77981400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:77980800-77981600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:77980800-77981600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr2:77980800-77981600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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