Variant report

Variant	esv3418661
Chromosome Location	chr6:165561912-165563960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140595315	chr6:165561930-165561931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531832755	chr6:165562043-165562044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550344318	chr6:165562079-165562080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559608000	chr6:165562193-165562194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552106480	chr6:165562217-165562218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1441898	chr6:165562231-165562232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2583829	chr6:165562296-165562297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547986692	chr6:165562297-165562298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111461583	chr6:165562306-165562307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192215934	chr6:165562310-165562311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557204910	chr6:165562318-165562319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145678010	chr6:165562322-165562323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138339365	chr6:165562351-165562352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567476984	chr6:165562371-165562372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566966356	chr6:165562434-165562435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537546634	chr6:165562508-165562509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73031139	chr6:165562530-165562531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577682231	chr6:165562532-165562533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535251642	chr6:165562587-165562588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184820285	chr6:165562606-165562607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553932694	chr6:165562616-165562617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142725355	chr6:165562675-165562676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201033315	chr6:165562723-165562724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542984305	chr6:165562726-165562727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547356179	chr6:165562753-165562754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559079718	chr6:165562763-165562764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189697503	chr6:165562784-165562785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531766033	chr6:165562797-165562798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150194545	chr6:165562863-165562864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112667646	chr6:165562897-165562898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552618628	chr6:165562971-165562972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138086282	chr6:165563018-165563019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566273063	chr6:165563020-165563021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73255575	chr6:165563064-165563065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs35443736	chr6:165563094-165563095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371353294	chr6:165563097-165563098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10686579	chr6:165563118-165563119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9356350	chr6:165563123-165563124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554669584	chr6:165563139-165563140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180860629	chr6:165563153-165563154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367865647	chr6:165563159-165563160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149547547	chr6:165563213-165563214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537484969	chr6:165563243-165563244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547477772	chr6:165563265-165563266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9459312	chr6:165563269-165563270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570890276	chr6:165563274-165563275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556144713	chr6:165563303-165563304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571205100	chr6:165563316-165563317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538733087	chr6:165563363-165563364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144022083	chr6:165563548-165563549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165559600-165562000	Enhancers	Brain Hippocampus Middle	brain
2	chr6:165561400-165570400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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