Variant report

Variant	nsv583310
Chromosome Location	chr2:151033721-151038142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114819968	chr2:151033751-151033752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543277157	chr2:151033805-151033806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568304196	chr2:151033879-151033880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192442600	chr2:151033880-151033881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536995896	chr2:151033914-151033915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540730190	chr2:151033926-151033927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184398163	chr2:151033929-151033930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188009071	chr2:151033942-151033943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192578182	chr2:151033959-151033960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115750165	chr2:151033987-151033988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184518508	chr2:151034141-151034142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535358378	chr2:151034159-151034160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549227602	chr2:151034170-151034171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565952464	chr2:151034193-151034194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535010867	chr2:151034234-151034235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111672560	chr2:151034249-151034250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571751409	chr2:151034252-151034253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34868536	chr2:151034257-151034258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141410670	chr2:151034366-151034367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540747420	chr2:151034369-151034370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571166334	chr2:151034424-151034425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557292449	chr2:151034456-151034457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141710139	chr2:151034466-151034467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558779303	chr2:151034511-151034512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115127259	chr2:151034539-151034540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386651601	chr2:151034588-151034589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76080110	chr2:151034651-151034652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571755807	chr2:151034678-151034679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540615943	chr2:151034700-151034701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563874547	chr2:151034734-151034735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188973107	chr2:151034800-151034801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140668632	chr2:151034801-151034802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563355197	chr2:151034820-151034821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144735682	chr2:151034843-151034844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549051654	chr2:151034874-151034875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6719194	chr2:151034884-151034885	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs12618949	chr2:151034931-151034932	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs202213417	chr2:151034943-151034944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553319059	chr2:151034968-151034969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181792519	chr2:151034986-151034987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571639266	chr2:151034998-151034999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142467554	chr2:151035004-151035005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35141031	chr2:151035026-151035027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531042219	chr2:151035078-151035079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550322157	chr2:151035185-151035186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147895466	chr2:151035242-151035243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551011853	chr2:151035284-151035285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116404915	chr2:151035313-151035314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73004255	chr2:151035315-151035316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140844500	chr2:151035456-151035457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	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
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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151031600-151034800	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:151032000-151034800	Weak transcription	A549	lung
3	chr2:151032000-151035000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:151032200-151035200	Weak transcription	Fetal Lung	lung
5	chr2:151032200-151035400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:151033200-151035600	Weak transcription	Fetal Intestine Small	intestine
7	chr2:151033400-151034800	Weak transcription	Liver	Liver
8	chr2:151033400-151034800	Weak transcription	Fetal Intestine Large	intestine
9	chr2:151033400-151035200	Weak transcription	Fetal Kidney	kidney
10	chr2:151034800-151035000	Enhancers	A549	lung
11	chr2:151034800-151035800	Enhancers	Liver	Liver
12	chr2:151034800-151035800	Enhancers	Fetal Intestine Large	intestine
13	chr2:151034800-151035800	Enhancers	Hela-S3	cervix
14	chr2:151035000-151035400	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr2:151035000-151035600	Weak transcription	A549	lung
16	chr2:151035200-151035400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:151035200-151035600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:151035200-151035600	Enhancers	K562	blood
19	chr2:151035200-151035800	Enhancers	Fetal Lung	lung
20	chr2:151035400-151035600	Enhancers	Fetal Kidney	kidney
21	chr2:151035400-151035800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:151035400-151047000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:151035600-151035800	Enhancers	Fetal Intestine Small	intestine
24	chr2:151035600-151035800	Enhancers	A549	lung
25	chr2:151035800-151038800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:151035800-151039200	Weak transcription	Fetal Lung	lung

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