Variant report

Variant	esv3393454
Chromosome Location	chr6:55491818-55494366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9464270	chr6:55491843-55491844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs70986739	chr6:55491872-55491873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535547533	chr6:55491888-55491889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555213168	chr6:55491893-55491894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565666668	chr6:55491936-55491937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534348266	chr6:55491979-55491980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544105156	chr6:55491995-55491996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577135921	chr6:55492011-55492012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144301090	chr6:55492033-55492034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113100361	chr6:55492051-55492052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576417124	chr6:55492110-55492111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62404317	chr6:55492120-55492121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562071322	chr6:55492142-55492143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564573091	chr6:55492146-55492147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572391841	chr6:55492151-55492152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541085189	chr6:55492185-55492186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564347823	chr6:55492186-55492187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62404318	chr6:55492210-55492211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs375465431	chr6:55492211-55492212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549961684	chr6:55492222-55492223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563464929	chr6:55492256-55492257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148749827	chr6:55492269-55492270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549040656	chr6:55492289-55492290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142310791	chr6:55492293-55492294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534576623	chr6:55492319-55492320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559745450	chr6:55492351-55492352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146305548	chr6:55492353-55492354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139468398	chr6:55492371-55492372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375308732	chr6:55492373-55492374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539752653	chr6:55492400-55492401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556477152	chr6:55492409-55492410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576558932	chr6:55492412-55492413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528579473	chr6:55492413-55492414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144561320	chr6:55492415-55492416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189262448	chr6:55492427-55492428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369784693	chr6:55492467-55492468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572473028	chr6:55492472-55492473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532090690	chr6:55492473-55492474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55703457	chr6:55492474-55492475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542736103	chr6:55492476-55492477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56143930	chr6:55492479-55492480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56273857	chr6:55492484-55492485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55872951	chr6:55492493-55492494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541389887	chr6:55492514-55492515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564480946	chr6:55492526-55492527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578101621	chr6:55492537-55492538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543738670	chr6:55492555-55492556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181750137	chr6:55492565-55492566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146632525	chr6:55492586-55492587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185686787	chr6:55492625-55492626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55479400-55504000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:55494200-55497600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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