Variant report

Variant	nsv970375
Chromosome Location	chr6:63034964-63043958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 172 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182523489	chr6:63034981-63034982	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs554681344	chr6:63035004-63035005	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs35119122	chr6:63035065-63035066	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs528478444	chr6:63035074-63035075	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs369167166	chr6:63035105-63035106	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs562233415	chr6:63035110-63035111	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186053042	chr6:63035118-63035119	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs551190852	chr6:63035130-63035131	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs572928128	chr6:63035167-63035168	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs540182467	chr6:63035170-63035171	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs576353922	chr6:63035206-63035207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140110552	chr6:63035207-63035208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190822783	chr6:63035215-63035216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567129641	chr6:63035241-63035242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140192898	chr6:63035268-63035269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142700882	chr6:63035315-63035316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150708767	chr6:63035316-63035317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139114182	chr6:63035380-63035381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537526566	chr6:63035395-63035396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149482679	chr6:63035421-63035422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577407210	chr6:63035519-63035520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540465088	chr6:63035523-63035524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144799679	chr6:63035535-63035536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375363895	chr6:63035554-63035555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544504154	chr6:63035637-63035638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553657073	chr6:63035655-63035656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565165847	chr6:63035684-63035685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139674800	chr6:63035710-63035711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540638073	chr6:63035728-63035729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532409832	chr6:63035738-63035739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144364954	chr6:63035766-63035767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544377971	chr6:63035771-63035772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544524055	chr6:63035774-63035775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146159934	chr6:63035777-63035778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551958010	chr6:63035842-63035843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567192256	chr6:63035869-63035870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527941759	chr6:63035880-63035881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548993964	chr6:63035933-63035934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561503092	chr6:63035936-63035937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12665768	chr6:63035961-63035962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537988743	chr6:63035992-63035993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73760630	chr6:63036006-63036007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530134877	chr6:63036047-63036048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75821305	chr6:63036056-63036057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181607353	chr6:63036070-63036071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548378169	chr6:63036226-63036227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185572732	chr6:63036230-63036231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78628392	chr6:63036235-63036236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191510719	chr6:63036239-63036240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542537643	chr6:63036329-63036330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63033600-63035200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:63033800-63035800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:63034000-63035600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:63034800-63035000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:63035000-63035200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:63035200-63038600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:63035600-63038400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:63035800-63038600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:63037200-63038800	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr6:63038400-63038800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:63038600-63039000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:63038600-63039000	Enhancers	Primary B cells from peripheral blood	blood
13	chr6:63038600-63039200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:63038600-63039200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:63038600-63039200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:63038600-63039200	Enhancers	HUES64 Cell Line	embryonic stem cell

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