Variant report

Variant	nsv582252
Chromosome Location	chr2:77276201-77345491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2880 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2880 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7558964	chr2:77277226-77277227	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574503048	chr2:77277228-77277229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528839640	chr2:77277231-77277232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77937553	chr2:77277254-77277255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367806371	chr2:77277255-77277256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75875747	chr2:77277256-77277257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185328543	chr2:77277294-77277295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189311265	chr2:77277330-77277331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565974010	chr2:77277331-77277332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367736562	chr2:77277374-77277375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369917113	chr2:77277386-77277387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559076460	chr2:77277403-77277404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145398953	chr2:77277408-77277409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373501744	chr2:77277435-77277436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572813969	chr2:77277436-77277437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564330674	chr2:77277440-77277441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528268662	chr2:77277449-77277450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181966340	chr2:77277469-77277470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185016235	chr2:77277474-77277475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541689684	chr2:77277492-77277493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528898242	chr2:77277503-77277504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs137913783	chr2:77277508-77277509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570269077	chr2:77277555-77277556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140800734	chr2:77277594-77277595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115775632	chr2:77277599-77277600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7559563	chr2:77277624-77277625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73940255	chr2:77277629-77277630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553055655	chr2:77277669-77277670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114248703	chr2:77277680-77277681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62170910	chr2:77277699-77277700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs112537709	chr2:77277702-77277703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370167405	chr2:77277707-77277708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575525407	chr2:77277727-77277728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546128603	chr2:77277737-77277738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557760563	chr2:77277739-77277740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573005590	chr2:77277749-77277750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540383962	chr2:77277752-77277753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561788882	chr2:77277783-77277784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143011196	chr2:77277790-77277791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62170911	chr2:77277802-77277803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs189608725	chr2:77277835-77277836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532781612	chr2:77277891-77277892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6708058	chr2:77277896-77277897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs200669781	chr2:77277897-77277898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369999375	chr2:77277914-77277915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114688015	chr2:77277991-77277992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180876297	chr2:77278004-77278005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368530916	chr2:77278045-77278046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558433621	chr2:77278049-77278050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374517227	chr2:77278057-77278058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Lung cancer	18438408	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
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
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77277200-77277400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:77277200-77277400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:77277400-77278000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:77277400-77278000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:77278000-77278200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:77278000-77279200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:77278000-77282200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:77278200-77278400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:77278400-77278600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:77278400-77281200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:77278600-77278800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:77278600-77279000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:77278800-77280000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:77278800-77281600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:77278800-77286400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:77279000-77284000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:77279200-77280200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:77279800-77280400	Enhancers	Brain Germinal Matrix	brain
19	chr2:77279800-77280800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:77280000-77280600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:77280200-77282200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:77280400-77281600	Weak transcription	Brain Germinal Matrix	brain
23	chr2:77280800-77286200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:77281200-77281600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:77281600-77281800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:77281600-77282400	Enhancers	Brain Germinal Matrix	brain
27	chr2:77281600-77286600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:77281800-77282400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:77282200-77282400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:77282400-77286800	Weak transcription	Brain Germinal Matrix	brain
31	chr2:77284000-77284200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:77284200-77284600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:77284600-77285000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:77286200-77287200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:77286400-77286600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:77286400-77286800	Enhancers	Brain Hippocampus Middle	brain
37	chr2:77286400-77287200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:77286400-77287200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:77286600-77287200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:77286800-77287200	Enhancers	Brain Germinal Matrix	brain
41	chr2:77286800-77287400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:77286800-77287400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:77295600-77296800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:77298600-77300000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:77299600-77300000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:77300000-77300200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:77300000-77311600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:77300200-77300400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:77300400-77301800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:77301800-77302400	Enhancers	HUES48 Cell Line	embryonic stem cell

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