Variant report

Variant	esv2421620
Chromosome Location	chr10:4437754-4439686
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	chr10:4434676..4437518-chr10:4437694..4440629,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1E2-9	chr10:4438633-4438765	l_242_chr10:4438632-4440996_testes
2	lnc-AKR1E2-9	chr10:4438694-4438765	NONHSAT011093
3	lnc-KLF6-15	chr10:4438317-4438544	l_241_chr10:4417616-4438544_testes

Extended variants
information (count: 95 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17132814	chr10:4437754-4437755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573910092	chr10:4437809-4437810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10904248	chr10:4437819-4437820	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs562591058	chr10:4437824-4437825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528956876	chr10:4437832-4437833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138477935	chr10:4437833-4437834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560502357	chr10:4437855-4437856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527910148	chr10:4437858-4437859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546346338	chr10:4437902-4437903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185616115	chr10:4437956-4437957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570264860	chr10:4438018-4438019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529043497	chr10:4438033-4438034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550584409	chr10:4438084-4438085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371992877	chr10:4438101-4438102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568903783	chr10:4438119-4438120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539719763	chr10:4438155-4438156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141929899	chr10:4438162-4438163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113055016	chr10:4438165-4438166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551663408	chr10:4438185-4438186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566514358	chr10:4438192-4438193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533998753	chr10:4438219-4438220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76274748	chr10:4438243-4438244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190773973	chr10:4438281-4438282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181868391	chr10:4438308-4438309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185503343	chr10:4438309-4438310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150697154	chr10:4438331-4438332	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs577646909	chr10:4438343-4438344	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs138936819	chr10:4438365-4438366	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs149252378	chr10:4438377-4438378	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs1679451	chr10:4438382-4438383	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs543201150	chr10:4438396-4438397	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs528089258	chr10:4438420-4438421	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs375918633	chr10:4438449-4438450	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs561361888	chr10:4438463-4438464	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs528979002	chr10:4438482-4438483	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs74822852	chr10:4438509-4438510	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs544349733	chr10:4438532-4438533	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs562439346	chr10:4438584-4438585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs56050314	chr10:4438594-4438595	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs567229809	chr10:4438596-4438597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536376556	chr10:4438610-4438611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74228847	chr10:4438615-4438616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551345323	chr10:4438622-4438623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1926800	chr10:4438623-4438624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs189820125	chr10:4438632-4438633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117217832	chr10:4438645-4438646	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs181301270	chr10:4438669-4438670	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs567384565	chr10:4438677-4438678	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs537927908	chr10:4438680-4438681	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs569678609	chr10:4438696-4438697	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4437600-4438600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr10:4438600-4441600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr10:4438800-4440200	Enhancers	Pancreatic Islets	Pancreatic Islet

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