Variant report

Variant	nsv550971
Chromosome Location	chr10:56375357-56411659
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRNR2L5-4	chr10:56378894-56379084	ENSG00000234173.1
2	lnc-MTRNR2L5-4	chr10:56378894-56379084	NONHSAT013457

Extended variants
information (count: 346 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10763120	chr10:56375357-56375358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564869395	chr10:56375363-56375364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532328758	chr10:56375429-56375430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202089907	chr10:56375470-56375471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143523852	chr10:56375471-56375472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71010396	chr10:56375472-56375473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113962531	chr10:56375473-56375474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576096292	chr10:56375481-56375482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370643578	chr10:56375548-56375549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541832871	chr10:56375555-56375556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375414300	chr10:56375654-56375655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367614140	chr10:56375655-56375656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147056254	chr10:56375679-56375680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550526953	chr10:56375681-56375682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564550739	chr10:56375700-56375701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565805826	chr10:56375728-56375729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138052477	chr10:56375729-56375730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149089799	chr10:56375753-56375754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536110013	chr10:56375782-56375783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143106960	chr10:56375791-56375792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549046066	chr10:56375804-56375805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116814638	chr10:56375806-56375807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374807581	chr10:56375848-56375849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534638433	chr10:56375877-56375878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551636274	chr10:56375886-56375887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114819078	chr10:56375947-56375948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564636538	chr10:56375991-56375992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537270590	chr10:56375995-56375996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201433922	chr10:56375998-56375999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556688553	chr10:56376031-56376032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34459424	chr10:56376068-56376069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528213994	chr10:56376111-56376112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190048793	chr10:56376149-56376150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7899023	chr10:56376155-56376156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572391909	chr10:56376194-56376195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573048479	chr10:56376215-56376216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541034056	chr10:56376224-56376225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376437508	chr10:56376237-56376238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558447891	chr10:56376240-56376241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578149652	chr10:56376272-56376273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544040239	chr10:56376278-56376279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533951531	chr10:56376303-56376304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181304697	chr10:56376306-56376307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6481110	chr10:56376360-56376361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185957827	chr10:56376361-56376362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559119601	chr10:56376387-56376388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75763153	chr10:56376400-56376401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71492624	chr10:56376431-56376432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551061080	chr10:56376435-56376436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547926528	chr10:56376453-56376454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Melanoma	17363583	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56373800-56381200	Weak transcription	HUVEC	blood vessel
2	chr10:56374000-56381200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:56381200-56381400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:56381200-56381400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:56381200-56382200	Flanking Active TSS	HUVEC	blood vessel
6	chr10:56381400-56381800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:56381400-56381800	Active TSS	Primary hematopoietic stem cells	blood
8	chr10:56381400-56381800	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr10:56381400-56381800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:56381400-56382000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:56381600-56382200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr10:56381800-56382000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr10:56381800-56382000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr10:56381800-56382200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:56382000-56382200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:56382200-56383000	Enhancers	HUVEC	blood vessel

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