Variant report

Variant	esv1840163
Chromosome Location	chr6:141534847-141549906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:141535806..141537434-chr6:141539065..141540907,2	K562	blood:
2	chr6:141535806..141537434-chr6:141539065..141540907,2	K562	blood:

Extended variants
information (count: 270 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9403262	chr6:141534847-141534848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533737688	chr6:141534863-141534864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147019438	chr6:141534906-141534907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567348364	chr6:141534939-141534940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148455113	chr6:141535010-141535011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35859226	chr6:141535053-141535054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397780696	chr6:141535061-141535062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538080525	chr6:141535062-141535063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186455362	chr6:141535064-141535065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3911275	chr6:141535086-141535087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538960486	chr6:141535110-141535111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554002275	chr6:141535187-141535188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73570244	chr6:141535194-141535195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543004033	chr6:141535236-141535237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369090231	chr6:141535253-141535254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554806268	chr6:141535260-141535261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs5880495	chr6:141535264-141535265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397802011	chr6:141535275-141535276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200137384	chr6:141535276-141535277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189975289	chr6:141535281-141535282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147561177	chr6:141535312-141535313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9389889	chr6:141535315-141535316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs6916170	chr6:141535328-141535329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs530273205	chr6:141535329-141535330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375455418	chr6:141535370-141535371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559810702	chr6:141535408-141535409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527339657	chr6:141535463-141535464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73776902	chr6:141535482-141535483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548552198	chr6:141535526-141535527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9373299	chr6:141535556-141535557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549428400	chr6:141535560-141535561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149033690	chr6:141535567-141535568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375145413	chr6:141535628-141535629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538799319	chr6:141535631-141535632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369634550	chr6:141535667-141535668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554214127	chr6:141535669-141535670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546790328	chr6:141535746-141535747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371553243	chr6:141535801-141535802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3861399	chr6:141535809-141535810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182966959	chr6:141535837-141535838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543944538	chr6:141535847-141535848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs5880496	chr6:141535853-141535854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559046942	chr6:141535867-141535868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577960840	chr6:141535904-141535905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143057603	chr6:141535910-141535911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560225549	chr6:141535947-141535948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs718176	chr6:141535977-141535978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542527426	chr6:141535982-141535983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148224293	chr6:141535984-141535985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531166674	chr6:141536082-141536083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Autism	22495311	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
Gastric cancer	17908304	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
Colorectal cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141531600-141542000	Weak transcription	Aorta	Aorta
2	chr6:141540800-141541800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:141541800-141542400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:141542000-141542600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:141542000-141542600	ZNF genes & repeats	Aorta	Aorta

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