Variant report

Variant	nsv5338
Chromosome Location	chr6:69670701-69701360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:69668152..69668716-chr6:69677675..69678207,2	MCF-7	breast:
2	chr6:69682967..69685609-chr6:69690760..69692583,2	K562	blood:
3	chr6:69676667..69679065-chr6:69686722..69689222,2	K562	blood:
4	chr6:69676667..69679537-chr6:69686722..69688400,2	K562	blood:
5	chr6:69683147..69685406-chr6:69688911..69691251,2	K562	blood:
6	chr6:69671912..69674615-chr6:69676195..69678865,4	K562	blood:
7	chr6:69688539..69691215-chr6:69691625..69694173,2	K562	blood:
8	chr6:69688539..69691215-chr6:69691625..69694173,2	K562	blood:
9	chr6:69676667..69679065-chr6:69686722..69689222,2	K562	blood:
10	chr6:69656160..69659095-chr6:69677328..69679855,2	K562	blood:
11	chr6:69699072..69700875-chr6:69703905..69706517,2	K562	blood:
12	chr6:69671912..69674615-chr6:69676195..69678865,4	K562	blood:
13	chr6:69685059..69685616-chr6:70439397..70440382,2	MCF-7	breast:
14	chr6:69676667..69679537-chr6:69686722..69688400,2	K562	blood:
15	chr6:69682967..69685609-chr6:69690760..69692583,2	K562	blood:
16	chr6:69683147..69685406-chr6:69688911..69691251,2	K562	blood:

No data

Extended variants
information (count: 1115 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1115 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542841893	chr6:69670724-69670725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562764257	chr6:69670754-69670755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376187846	chr6:69670783-69670784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73465383	chr6:69670797-69670798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10945149	chr6:69670880-69670881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527326123	chr6:69670977-69670978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188928578	chr6:69670990-69670991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567597766	chr6:69670998-69670999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62418279	chr6:69671004-69671005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182245585	chr6:69671006-69671007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187272795	chr6:69671040-69671041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73465384	chr6:69671087-69671088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562318326	chr6:69671118-69671119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376192774	chr6:69671154-69671155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558280230	chr6:69671158-69671159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115790205	chr6:69671179-69671180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140251463	chr6:69671197-69671198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553858993	chr6:69671216-69671217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573671453	chr6:69671222-69671223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542929584	chr6:69671244-69671245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562800711	chr6:69671252-69671253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146986177	chr6:69671278-69671279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377752908	chr6:69671318-69671319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545268118	chr6:69671377-69671378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565030067	chr6:69671426-69671427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527378646	chr6:69671428-69671429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114216751	chr6:69671445-69671446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560887246	chr6:69671461-69671462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529676365	chr6:69671490-69671491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550105684	chr6:69671516-69671517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569964326	chr6:69671529-69671530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3798969	chr6:69671585-69671586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs552072954	chr6:69671599-69671600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571741877	chr6:69671601-69671602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534056328	chr6:69671623-69671624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574722210	chr6:69671649-69671650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553814639	chr6:69671667-69671668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189347872	chr6:69671673-69671674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138174637	chr6:69671675-69671676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180854001	chr6:69671712-69671713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116887209	chr6:69671771-69671772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545616088	chr6:69671790-69671791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117821698	chr6:69671843-69671844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551853092	chr6:69671886-69671887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540780707	chr6:69671899-69671900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3798970	chr6:69671910-69671911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529764172	chr6:69671939-69671940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543434686	chr6:69671947-69671948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563610074	chr6:69671965-69671966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549784910	chr6:69671985-69671986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	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
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69645600-69679000	Weak transcription	Fetal Brain Female	brain
2	chr6:69646000-69685000	Weak transcription	Fetal Lung	lung
3	chr6:69646200-69677200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:69647600-69677800	Weak transcription	Brain Anterior Caudate	brain
5	chr6:69652200-69684600	Weak transcription	Brain Angular Gyrus	brain
6	chr6:69652800-69672800	Weak transcription	Fetal Brain Male	brain
7	chr6:69654400-69677600	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:69655000-69677600	Weak transcription	Brain Substantia Nigra	brain
9	chr6:69666600-69677800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:69666800-69672800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:69667600-69672200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:69668000-69675000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:69670200-69685000	Weak transcription	Brain Germinal Matrix	brain
14	chr6:69672200-69675800	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:69672800-69673200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:69673200-69680600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:69674000-69677800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:69675000-69676400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:69675800-69681600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:69676400-69676800	Enhancers	K562	blood
21	chr6:69676400-69677600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:69676800-69678200	Flanking Active TSS	K562	blood
23	chr6:69676800-69678400	Enhancers	Primary hematopoietic stem cells	blood
24	chr6:69677200-69677600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:69677200-69677600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:69677200-69678200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:69677400-69678000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:69677400-69678000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:69677400-69678200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr6:69677600-69677800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr6:69677600-69678000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:69677600-69678000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:69677600-69678000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:69677600-69678000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:69677600-69678000	Enhancers	Brain Hippocampus Middle	brain
36	chr6:69677600-69678000	Enhancers	Brain Substantia Nigra	brain
37	chr6:69677600-69678000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr6:69677600-69678200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:69677600-69678600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr6:69677800-69678000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:69677800-69678200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:69677800-69678200	Enhancers	Brain Anterior Caudate	brain
43	chr6:69677800-69678400	Enhancers	Brain Cingulate Gyrus	brain
44	chr6:69677800-69678400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr6:69677800-69678400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr6:69677800-69678400	Enhancers	Osteobl	bone
47	chr6:69677800-69678600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:69678000-69678600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:69678000-69678600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:69678200-69678400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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