Variant report

Variant	nsv963883
Chromosome Location	chr2:134508919-134516201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 258 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:258 , 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	rs13011368	chr2:134508957-134508958	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7590539	chr2:134508963-134508964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13011121	chr2:134509001-134509002	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs140827286	chr2:134509026-134509027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181347742	chr2:134509042-134509043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550179011	chr2:134509064-134509065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571538040	chr2:134509065-134509066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186361940	chr2:134509099-134509100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547743505	chr2:134509110-134509111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555147965	chr2:134509122-134509123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566277122	chr2:134509144-134509145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375626987	chr2:134509151-134509152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75683276	chr2:134509163-134509164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111827992	chr2:134509164-134509165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199839546	chr2:134509168-134509169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57793061	chr2:134509169-134509170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190021653	chr2:134509170-134509171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201217100	chr2:134509177-134509178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149729536	chr2:134509213-134509214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569813235	chr2:134509216-134509217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537608745	chr2:134509308-134509309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34691659	chr2:134509309-134509310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181752177	chr2:134509334-134509335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558557046	chr2:134509335-134509336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186061177	chr2:134509367-134509368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541322737	chr2:134509384-134509385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552809745	chr2:134509410-134509411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574382221	chr2:134509442-134509443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191176064	chr2:134509646-134509647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183303969	chr2:134509678-134509679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541669549	chr2:134509722-134509723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61650001	chr2:134509769-134509770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531728567	chr2:134509770-134509771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397748019	chr2:134509777-134509778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141468316	chr2:134509834-134509835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577486207	chr2:134509860-134509861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532354210	chr2:134509861-134509862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7568496	chr2:134509873-134509874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs16828766	chr2:134509883-134509884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs118045346	chr2:134509908-134509909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548827793	chr2:134509935-134509936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570247614	chr2:134509937-134509938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537164628	chr2:134509995-134509996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186050031	chr2:134509999-134510000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147027255	chr2:134510053-134510054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570437996	chr2:134510148-134510149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534361541	chr2:134510284-134510285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34105592	chr2:134510288-134510289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190907264	chr2:134510292-134510293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577908292	chr2:134510303-134510304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134505800-134511400	Weak transcription	Left Ventricle	heart
2	chr2:134506000-134512800	Weak transcription	NHLF	lung
3	chr2:134506600-134509200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:134507000-134509600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:134507200-134510600	Weak transcription	Fetal Heart	heart
6	chr2:134508800-134512600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:134508800-134513200	Weak transcription	Fetal Brain Female	brain
8	chr2:134509000-134509200	Enhancers	Fetal Brain Male	brain
9	chr2:134509200-134512800	Weak transcription	Fetal Brain Male	brain
10	chr2:134509400-134509800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:134509600-134510000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:134510000-134510800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:134510600-134514200	Enhancers	Fetal Heart	heart
14	chr2:134511000-134512600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:134511400-134511600	Enhancers	Left Ventricle	heart
16	chr2:134511400-134511600	Enhancers	Right Atrium	heart
17	chr2:134511400-134511800	Enhancers	Right Ventricle	heart
18	chr2:134511600-134512800	Weak transcription	Left Ventricle	heart
19	chr2:134511600-134512800	Weak transcription	Right Atrium	heart
20	chr2:134511800-134512800	Weak transcription	Right Ventricle	heart
21	chr2:134512400-134514200	Enhancers	Osteobl	bone
22	chr2:134512400-134514600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:134512600-134512800	Weak transcription	Fetal Lung	lung
24	chr2:134512600-134513400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:134512600-134514200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:134512800-134513000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:134512800-134513000	Enhancers	Esophagus	oesophagus
28	chr2:134512800-134513000	Enhancers	Fetal Brain Male	brain
29	chr2:134512800-134513000	Enhancers	Left Ventricle	heart
30	chr2:134512800-134513000	Enhancers	Right Ventricle	heart
31	chr2:134512800-134513000	Enhancers	Small Intestine	intestine
32	chr2:134512800-134513000	Enhancers	NHLF	lung
33	chr2:134512800-134513400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:134512800-134513600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:134512800-134513600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:134512800-134513600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:134512800-134513600	Enhancers	Stomach Smooth Muscle	stomach
38	chr2:134512800-134514000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:134512800-134514000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:134512800-134514000	Enhancers	Adipose Nuclei	Adipose
41	chr2:134512800-134514000	Enhancers	Rectal Smooth Muscle	rectum
42	chr2:134512800-134514000	Enhancers	NH-A	brain
43	chr2:134512800-134514200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:134512800-134514200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:134512800-134514200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:134512800-134514200	Enhancers	Colon Smooth Muscle	Colon
47	chr2:134512800-134514200	Enhancers	Fetal Stomach	stomach
48	chr2:134512800-134514200	Enhancers	Lung	lung
49	chr2:134512800-134514200	Enhancers	Ovary	ovary
50	chr2:134512800-134514200	Enhancers	Right Atrium	heart

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