Variant report

Variant	esv3382948
Chromosome Location	chr2:116042382-116045480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115243726	chr2:116042399-116042400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191268170	chr2:116042401-116042402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571940266	chr2:116042506-116042507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541070438	chr2:116042512-116042513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369519406	chr2:116042526-116042527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554610273	chr2:116042540-116042541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574546338	chr2:116042608-116042609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548666653	chr2:116042638-116042639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543560237	chr2:116042659-116042660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563044403	chr2:116042692-116042693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183994452	chr2:116042794-116042795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560655387	chr2:116042840-116042841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545362424	chr2:116042844-116042845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs58005171	chr2:116042871-116042872	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189400139	chr2:116042927-116042928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547722274	chr2:116042985-116042986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567330950	chr2:116043009-116043010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374615703	chr2:116043071-116043072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35027989	chr2:116043075-116043076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530098592	chr2:116043076-116043077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549882490	chr2:116043077-116043078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139118004	chr2:116043101-116043102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569488996	chr2:116043114-116043115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113075865	chr2:116043115-116043116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182025702	chr2:116043163-116043164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113688289	chr2:116043209-116043210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377722957	chr2:116043210-116043211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115482517	chr2:116043273-116043274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369753705	chr2:116043344-116043345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554571574	chr2:116043410-116043411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35672000	chr2:116043474-116043475	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186632971	chr2:116043504-116043505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76897581	chr2:116043506-116043507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535108609	chr2:116043542-116043543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561744776	chr2:116043591-116043592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200365007	chr2:116043592-116043593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146276616	chr2:116043593-116043594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113755988	chr2:116043598-116043599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141682024	chr2:116043634-116043635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141340141	chr2:116043732-116043733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545630233	chr2:116043738-116043739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376060164	chr2:116043775-116043776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190145844	chr2:116043819-116043820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182038714	chr2:116043856-116043857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541339587	chr2:116043941-116043942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115582031	chr2:116043998-116043999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370816648	chr2:116044005-116044006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186416973	chr2:116044040-116044041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs36156428	chr2:116044057-116044058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200178210	chr2:116044064-116044065	Weak transcription	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116040600-116043600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:116041600-116042600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:116042200-116043200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:116042200-116043400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:116042200-116043400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:116042200-116043600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:116042400-116043400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:116042400-116043600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:116042600-116043200	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:116042600-116043400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:116042600-116043600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:116042800-116043000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:116042800-116043200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:116042800-116043400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:116042800-116043400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:116043000-116051600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:116043400-116044400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:116043400-116052400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:116044400-116044600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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