Variant report

Variant	esv3474135
Chromosome Location	chr6:81644706-81647050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192820129	chr6:81644732-81644733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs550768861	chr6:81644747-81644748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs567862912	chr6:81644749-81644750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs536481751	chr6:81644801-81644802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114482391	chr6:81644831-81644832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528738557	chr6:81644849-81644850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370012706	chr6:81644907-81644908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185446840	chr6:81644934-81644935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558530441	chr6:81644939-81644940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575105517	chr6:81644954-81644955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189556680	chr6:81644995-81644996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191872017	chr6:81645004-81645005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574564191	chr6:81645012-81645013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184235131	chr6:81645079-81645080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115243942	chr6:81645108-81645109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374536719	chr6:81645115-81645116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188177796	chr6:81645129-81645130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148243306	chr6:81645130-81645131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180896339	chr6:81645167-81645168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199651272	chr6:81645187-81645188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186309685	chr6:81645230-81645231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190805696	chr6:81645252-81645253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113135464	chr6:81645268-81645269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34205786	chr6:81645271-81645272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116094465	chr6:81645312-81645313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546827397	chr6:81645341-81645342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536232914	chr6:81645360-81645361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566680828	chr6:81645378-81645379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78614633	chr6:81645408-81645409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558953296	chr6:81645413-81645414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569519317	chr6:81645431-81645432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537473276	chr6:81645445-81645446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554548157	chr6:81645472-81645473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566849867	chr6:81645522-81645523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574626198	chr6:81645534-81645535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1460186	chr6:81645541-81645542	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6924569	chr6:81645551-81645552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577083538	chr6:81645559-81645560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534035205	chr6:81645585-81645586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562672921	chr6:81645609-81645610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558481771	chr6:81645634-81645635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113487666	chr6:81645660-81645661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187096902	chr6:81645681-81645682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560935357	chr6:81645712-81645713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112515996	chr6:81645774-81645775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546664156	chr6:81645791-81645792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs137931658	chr6:81645813-81645814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550717723	chr6:81645822-81645823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117491301	chr6:81645834-81645835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544538625	chr6:81645871-81645872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81642800-81644800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:81644800-81645200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:81645200-81645600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:81645600-81646400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:81646400-81648400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:81646800-81647000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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