Variant report

Variant	esv3497001
Chromosome Location	chr6:66127062-66129261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145515256	chr6:66127067-66127068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11963729	chr6:66127142-66127143	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs201486840	chr6:66127151-66127152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12203425	chr6:66127163-66127164	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559897856	chr6:66127186-66127187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573310994	chr6:66127226-66127227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542128993	chr6:66127242-66127243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138094968	chr6:66127261-66127262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529663417	chr6:66127279-66127280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549344741	chr6:66127288-66127289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563274050	chr6:66127309-66127310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149502213	chr6:66127317-66127318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551938359	chr6:66127358-66127359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79022396	chr6:66127363-66127364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376188761	chr6:66127397-66127398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72888686	chr6:66127429-66127430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143145382	chr6:66127472-66127473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548524066	chr6:66127474-66127475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568337682	chr6:66127511-66127512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111227666	chr6:66127516-66127517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557317087	chr6:66127520-66127521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148215303	chr6:66127607-66127608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142774774	chr6:66127644-66127645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376019445	chr6:66127684-66127685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182634636	chr6:66127690-66127691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188008398	chr6:66127719-66127720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555668158	chr6:66127730-66127731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531059529	chr6:66127731-66127732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147352202	chr6:66127788-66127789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193057291	chr6:66127791-66127792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370414102	chr6:66127831-66127832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139407570	chr6:66127837-66127838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531970036	chr6:66127842-66127843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371030	chr6:66127854-66127855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559153606	chr6:66127912-66127913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565111515	chr6:66127937-66127938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528321299	chr6:66127944-66127945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369938438	chr6:66127970-66127971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568402890	chr6:66127973-66127974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183503518	chr6:66127978-66127979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551142313	chr6:66128037-66128038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550557511	chr6:66128096-66128097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77005555	chr6:66128129-66128130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111412427	chr6:66128130-66128131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112467260	chr6:66128131-66128132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2351009	chr6:66128173-66128174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568748342	chr6:66128191-66128192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566605967	chr6:66128234-66128235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535686911	chr6:66128302-66128303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188807410	chr6:66128305-66128306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66125000-66127800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:66125200-66127800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:66126200-66133200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:66126400-66127400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links