Variant report

Variant	esv3849
Chromosome Location	chr6:69818249-69825384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:69806123..69808898-chr6:69816557..69818804,2	K562	blood:

Extended variants
information (count: 250 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36055393	chr6:69818279-69818280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11322639	chr6:69818280-69818281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199819259	chr6:69818292-69818293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200867517	chr6:69818293-69818294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375283957	chr6:69818294-69818295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534416763	chr6:69818304-69818305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554186236	chr6:69818330-69818331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574106284	chr6:69818359-69818360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146287559	chr6:69818369-69818370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556862049	chr6:69818399-69818400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577045477	chr6:69818417-69818418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147934006	chr6:69818438-69818439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561033890	chr6:69818445-69818446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191289382	chr6:69818468-69818469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139229827	chr6:69818577-69818578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181231142	chr6:69818581-69818582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9363983	chr6:69818593-69818594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs149565665	chr6:69818606-69818607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371053255	chr6:69818615-69818616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186929619	chr6:69818631-69818632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530138939	chr6:69818640-69818641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543804935	chr6:69818641-69818642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144269578	chr6:69818736-69818737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532673051	chr6:69818739-69818740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552785736	chr6:69818743-69818744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115138108	chr6:69818755-69818756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528646034	chr6:69818760-69818761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547887283	chr6:69818831-69818832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567790813	chr6:69818833-69818834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536666865	chr6:69818846-69818847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556513801	chr6:69818851-69818852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570769097	chr6:69818965-69818966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539341391	chr6:69818983-69818984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148737543	chr6:69818994-69818995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572954517	chr6:69819051-69819052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112689866	chr6:69819072-69819073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375698017	chr6:69819073-69819074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56182350	chr6:69819076-69819077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542015863	chr6:69819083-69819084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529927027	chr6:69819141-69819142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557952687	chr6:69819163-69819164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144754216	chr6:69819169-69819170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191828137	chr6:69819174-69819175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183237204	chr6:69819209-69819210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187787751	chr6:69819229-69819230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77087195	chr6:69819272-69819273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62406779	chr6:69819291-69819292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559951368	chr6:69819361-69819362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190750974	chr6:69819393-69819394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573348273	chr6:69819408-69819409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Acute lymphoblastic leukemia	21098271	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69799400-69820800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:69800800-69820600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:69816800-69820600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:69817000-69820400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:69820400-69822400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:69820600-69821400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:69820600-69822400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:69820800-69822000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:69821000-69822200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr6:69821200-69821400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr6:69821200-69821400	Enhancers	Brain Hippocampus Middle	brain
12	chr6:69821400-69823000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:69821400-69826400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:69821400-69832200	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:69822000-69831400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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