Variant report

Variant	esv3399058
Chromosome Location	chr6:62663993-62666241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 327 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17351754	chr6:62663993-62663994	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543810152	chr6:62664007-62664008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112204015	chr6:62664056-62664057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532106184	chr6:62664100-62664101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4710594	chr6:62664101-62664102	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs113948801	chr6:62664111-62664112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17351796	chr6:62664113-62664114	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187134255	chr6:62664142-62664143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189560756	chr6:62664181-62664182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12697928	chr6:62664185-62664186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181517340	chr6:62664195-62664196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570415280	chr6:62664201-62664202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9360197	chr6:62664211-62664212	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141699667	chr6:62664227-62664228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572193905	chr6:62664242-62664243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560072554	chr6:62664248-62664249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72882498	chr6:62664259-62664260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555144100	chr6:62664271-62664272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576601236	chr6:62664273-62664274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544005408	chr6:62664277-62664278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142467726	chr6:62664282-62664283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376079162	chr6:62664285-62664286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565531980	chr6:62664292-62664293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577633989	chr6:62664297-62664298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13217133	chr6:62664299-62664300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541012358	chr6:62664303-62664304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375461758	chr6:62664311-62664312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552125992	chr6:62664317-62664318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs70993190	chr6:62664320-62664321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559417955	chr6:62664323-62664324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145934382	chr6:62664325-62664326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541599626	chr6:62664329-62664330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9360198	chr6:62664337-62664338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563404548	chr6:62664345-62664346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530571561	chr6:62664351-62664352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551972178	chr6:62664354-62664355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13195410	chr6:62664378-62664379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570375816	chr6:62664392-62664393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13195497	chr6:62664404-62664405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528407943	chr6:62664410-62664411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547367039	chr6:62664434-62664435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565784932	chr6:62664436-62664437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151159088	chr6:62664438-62664439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549606417	chr6:62664447-62664448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185024487	chr6:62664451-62664452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114973073	chr6:62664457-62664458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554726790	chr6:62664461-62664462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570138648	chr6:62664464-62664465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200085264	chr6:62664465-62664466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537221205	chr6:62664466-62664467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
small cell lung cancer	20016488	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
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62575400-62667600	Weak transcription	Primary B cells from cord blood	blood
2	chr6:62663200-62664200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:62663200-62664200	Enhancers	Fetal Intestine Large	intestine
4	chr6:62663200-62664400	Enhancers	Fetal Brain Male	brain
5	chr6:62663600-62664000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:62663600-62664200	Enhancers	Fetal Intestine Small	intestine
7	chr6:62663800-62664200	Enhancers	Brain Substantia Nigra	brain
8	chr6:62664000-62668200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:62664200-62668000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:62664400-62668000	Weak transcription	Fetal Brain Male	brain

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