Variant report

Variant	esv3321593
Chromosome Location	chr6:63596093-63600491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 207 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4307155	chr6:63596112-63596113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528915136	chr6:63596125-63596126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550149859	chr6:63596214-63596215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73499367	chr6:63596222-63596223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376011239	chr6:63596230-63596231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539307514	chr6:63596266-63596267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551177053	chr6:63596278-63596279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75786733	chr6:63596288-63596289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566303165	chr6:63596328-63596329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183562672	chr6:63596337-63596338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187998260	chr6:63596367-63596368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191519558	chr6:63596384-63596385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535528994	chr6:63596398-63596399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58459798	chr6:63596400-63596401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576015769	chr6:63596414-63596415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182497621	chr6:63596419-63596420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60776138	chr6:63596433-63596434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570423106	chr6:63596434-63596435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572133706	chr6:63596441-63596442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112329954	chr6:63596447-63596448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543807807	chr6:63596466-63596467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368893792	chr6:63596477-63596478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200835364	chr6:63596547-63596548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78940259	chr6:63596549-63596550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373560702	chr6:63596568-63596569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143541124	chr6:63596569-63596570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568980722	chr6:63596594-63596595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551291307	chr6:63596611-63596612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148069870	chr6:63596619-63596620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527536220	chr6:63596686-63596687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75212261	chr6:63596690-63596691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150100559	chr6:63596692-63596693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535913871	chr6:63596722-63596723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191218999	chr6:63596728-63596729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184760534	chr6:63596731-63596732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12189713	chr6:63596738-63596739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138665575	chr6:63596743-63596744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35047777	chr6:63596797-63596798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs80118158	chr6:63596798-63596799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12208330	chr6:63596816-63596817	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs113398594	chr6:63596824-63596825	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573663028	chr6:63596840-63596841	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540157957	chr6:63596847-63596848	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543876188	chr6:63596851-63596852	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562223609	chr6:63596874-63596875	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532800220	chr6:63596938-63596939	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12194576	chr6:63596945-63596946	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs541262739	chr6:63596975-63596976	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560235544	chr6:63596995-63596996	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199936540	chr6:63597004-63597005	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Lung cancer	18438408	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
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	15273396	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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63591800-63596800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:63595200-63599200	Weak transcription	A549	lung
3	chr6:63596800-63597800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:63597800-63598200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:63598200-63603800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:63599200-63599600	Enhancers	A549	lung

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