Variant report

Variant	esv1800496
Chromosome Location	chr6:120585486-120599836
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 195 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:195 , 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	rs540765381	chr6:120594405-120594406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535554716	chr6:120594422-120594423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145062990	chr6:120594529-120594530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181008866	chr6:120594549-120594550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184528454	chr6:120594554-120594555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78323925	chr6:120594557-120594558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189052729	chr6:120594570-120594571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575821403	chr6:120594582-120594583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138890575	chr6:120594609-120594610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550149523	chr6:120594620-120594621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570146478	chr6:120594646-120594647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539123690	chr6:120594651-120594652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76970605	chr6:120594678-120594679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115478569	chr6:120594733-120594734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117913756	chr6:120594826-120594827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79666221	chr6:120594829-120594830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555929869	chr6:120594854-120594855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575845041	chr6:120594859-120594860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544962275	chr6:120594940-120594941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34850816	chr6:120594960-120594961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543360570	chr6:120594990-120594991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111441767	chr6:120594995-120594996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149081354	chr6:120594999-120595000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372860564	chr6:120595031-120595032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143152496	chr6:120595059-120595060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148271678	chr6:120595116-120595117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529401085	chr6:120595144-120595145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546860305	chr6:120595171-120595172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141349031	chr6:120595190-120595191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561956812	chr6:120595203-120595204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530698292	chr6:120595205-120595206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs207467401	chr6:120595259-120595260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570433493	chr6:120595287-120595288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7755668	chr6:120595314-120595315	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs74393248	chr6:120595339-120595340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541037496	chr6:120595389-120595390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181199950	chr6:120595404-120595405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559060624	chr6:120595480-120595481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185295310	chr6:120595485-120595486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73522833	chr6:120595499-120595500	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs555672771	chr6:120595502-120595503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114409784	chr6:120595520-120595521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538519206	chr6:120595521-120595522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558463536	chr6:120595530-120595531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs578254439	chr6:120595541-120595542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112060051	chr6:120595625-120595626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190669352	chr6:120595678-120595679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181553468	chr6:120595690-120595691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532391371	chr6:120595740-120595741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75348793	chr6:120595741-120595742	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120594400-120596000	Enhancers	Fetal Lung	lung
2	chr6:120595200-120596400	Enhancers	Primary B cells from cord blood	blood
3	chr6:120595200-120596400	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:120596000-120599200	Weak transcription	Fetal Lung	lung
5	chr6:120598000-120598400	Enhancers	Fetal Brain Female	brain
6	chr6:120598200-120600400	Enhancers	Fetal Brain Male	brain
7	chr6:120598400-120600000	Weak transcription	Fetal Brain Female	brain
8	chr6:120599000-120599200	Enhancers	Fetal Heart	heart
9	chr6:120599200-120600000	Enhancers	Fetal Lung	lung
10	chr6:120599200-120600200	Weak transcription	Fetal Heart	heart
11	chr6:120599600-120600000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:120599800-120600200	Enhancers	Fetal Muscle Leg	muscle
13	chr6:120599800-120600400	Enhancers	HUES48 Cell Line	embryonic stem cell

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