Variant report

Variant	nsv964349
Chromosome Location	chr2:116051086-116054027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572104344	chr2:116051133-116051134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180676978	chr2:116051146-116051147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186381648	chr2:116051175-116051176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6726183	chr2:116051188-116051189	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543572113	chr2:116051189-116051190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369955044	chr2:116051194-116051195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532248964	chr2:116051241-116051242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs57316966	chr2:116051246-116051247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532775348	chr2:116051271-116051272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548848724	chr2:116051289-116051290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372554102	chr2:116051294-116051295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565935723	chr2:116051415-116051416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528405491	chr2:116051433-116051434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181600958	chr2:116051449-116051450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs137909678	chr2:116051450-116051451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185965192	chr2:116051493-116051494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571124447	chr2:116051528-116051529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570221607	chr2:116051529-116051530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374675371	chr2:116051534-116051535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190430405	chr2:116051556-116051557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558729762	chr2:116051637-116051638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184052939	chr2:116051683-116051684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199857060	chr2:116051725-116051726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537157085	chr2:116051783-116051784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557052258	chr2:116051804-116051805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541339383	chr2:116051816-116051817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554513030	chr2:116051869-116051870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189053545	chr2:116051923-116051924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7563349	chr2:116051927-116051928	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs190800602	chr2:116051974-116051975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369305260	chr2:116051994-116051995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78928836	chr2:116052002-116052003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201246765	chr2:116052007-116052008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182657750	chr2:116052067-116052068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187241341	chr2:116052099-116052100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567861937	chr2:116052136-116052137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559604087	chr2:116052163-116052164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528368288	chr2:116052289-116052290	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs536835040	chr2:116052358-116052359	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs142412467	chr2:116052362-116052363	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs568031555	chr2:116052386-116052387	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs10178649	chr2:116052449-116052450	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553430647	chr2:116052464-116052465	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112775000	chr2:116052472-116052473	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148656190	chr2:116052480-116052481	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112716617	chr2:116052620-116052621	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs570404861	chr2:116052641-116052642	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs141244943	chr2:116052642-116052643	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs111441377	chr2:116052651-116052652	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs191684215	chr2:116052683-116052684	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17621639	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116043000-116051600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:116043400-116052400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:116050800-116051200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:116050800-116054000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:116050800-116068000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:116051200-116051600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:116051200-116052200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:116051200-116054000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:116051200-116054200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:116051400-116053400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:116051400-116054200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:116051600-116051800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:116051600-116052400	Enhancers	Brain Angular Gyrus	brain
14	chr2:116051600-116052800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:116051600-116052800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:116051600-116053200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:116051600-116053200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:116051600-116053200	Enhancers	Brain Hippocampus Middle	brain
19	chr2:116051600-116053400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:116051800-116052000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:116051800-116052600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:116051800-116053200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:116051800-116053400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:116052200-116052800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:116052200-116052800	Enhancers	Brain Germinal Matrix	brain
26	chr2:116052200-116053000	Enhancers	Brain Anterior Caudate	brain
27	chr2:116052400-116052800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:116052400-116053000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:116052400-116053400	Weak transcription	Brain Angular Gyrus	brain
30	chr2:116052400-116053800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:116052600-116052800	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:116052600-116053800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:116052800-116053400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:116052800-116053600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:116052800-116056000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:116053200-116053800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:116053200-116054000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:116053400-116056400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:116053600-116053800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:116053600-116053800	Enhancers	Brain Angular Gyrus	brain
41	chr2:116053600-116054200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:116053800-116054000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:116053800-116056200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:116054000-116054200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:116054000-116054200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:116054000-116055200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:116054000-116057000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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