Variant report

Variant	nsv982876
Chromosome Location	chr10:53989312-53999791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBL2-5	chr10:53990519-53991157	ENSG00000236671
2	lnc-MBL2-5	chr10:53990157-53991157	NONHSAT013418
3	lnc-MBL2-5	chr10:53990788-53990881	l_313_chr10:53986797-54185097_lymphNode
4	lnc-MBL2-5	chr10:53990502-53991157	ENSG00000236671.3
5	lnc-MBL2-5	chr10:53990772-53990881	NONHSAT013417

Extended variants
information (count: 130 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10824270	chr10:53989335-53989336	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575289165	chr10:53989410-53989411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142987083	chr10:53989492-53989493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146085297	chr10:53989502-53989503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554694578	chr10:53989515-53989516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575131585	chr10:53989559-53989560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540424950	chr10:53989560-53989561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563734240	chr10:53989606-53989607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560849011	chr10:53989632-53989633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12265533	chr10:53989660-53989661	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs189828926	chr10:53989661-53989662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562778201	chr10:53989726-53989727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181447994	chr10:53989760-53989761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12258930	chr10:53989772-53989773	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs117413658	chr10:53989777-53989778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529850912	chr10:53989804-53989805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185352110	chr10:53989827-53989828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373699331	chr10:53989837-53989838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539756532	chr10:53989846-53989847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140103392	chr10:53989875-53989876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566778228	chr10:53990002-53990003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538580821	chr10:53990024-53990025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188259085	chr10:53990031-53990032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371130426	chr10:53990130-53990131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568910025	chr10:53990137-53990138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537835375	chr10:53990244-53990245	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs143367430	chr10:53990267-53990268	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs574544274	chr10:53990287-53990288	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs532718634	chr10:53990296-53990297	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs180813761	chr10:53990336-53990337	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs186447951	chr10:53990353-53990354	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs192309319	chr10:53990364-53990365	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs577352493	chr10:53990547-53990548	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs1609539	chr10:53990587-53990588	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183674659	chr10:53990627-53990628	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs531602030	chr10:53990646-53990647	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs41280428	chr10:53990654-53990655	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs187040305	chr10:53990720-53990721	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs146714837	chr10:53990744-53990745	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs148456971	chr10:53990754-53990755	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs566582066	chr10:53990756-53990757	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs142660362	chr10:53990772-53990773	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs552234573	chr10:53990817-53990818	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs548470419	chr10:53990862-53990863	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs12269231	chr10:53990863-53990864	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537849419	chr10:53990868-53990869	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs151013748	chr10:53990924-53990925	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs140688116	chr10:53991012-53991013	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs145796229	chr10:53991035-53991036	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs537137856	chr10:53991044-53991045	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	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

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53977000-53992400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:53986600-53992400	Weak transcription	NHLF	lung
3	chr10:53988000-53989600	Enhancers	HMEC	breast
4	chr10:53988000-53989600	Enhancers	NHEK	skin
5	chr10:53988200-53989400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:53988200-53989600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:53988200-53990600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:53988400-53989400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:53989000-53989400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr10:53989000-53989600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:53989000-53989600	Enhancers	HUVEC	blood vessel
12	chr10:53989000-53989600	Enhancers	NHDF-Ad	bronchial
13	chr10:53989400-53992400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr10:53989400-53992400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:53989400-53992400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:53989600-53992200	Weak transcription	HUVEC	blood vessel
17	chr10:53989600-53992400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:53989600-53992400	Weak transcription	HMEC	breast
19	chr10:53989600-53992400	Weak transcription	NHEK	skin
20	chr10:53990600-53992400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:53990800-53991800	Enhancers	Stomach Mucosa	stomach
22	chr10:53990800-53993000	Enhancers	Primary B cells from peripheral blood	blood
23	chr10:53991200-53992400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:53991600-53992600	Enhancers	Primary B cells from cord blood	blood
25	chr10:53991800-53992200	Weak transcription	Stomach Mucosa	stomach
26	chr10:53991800-53992400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:53991800-53992600	Enhancers	Primary hematopoietic stem cells	blood
28	chr10:53991800-53993000	Enhancers	GM12878-XiMat	blood
29	chr10:53991800-53993200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr10:53992000-53992800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr10:53992200-53992400	Enhancers	Fetal Lung	lung
32	chr10:53992200-53992400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr10:53992200-53992400	Enhancers	A549	lung
34	chr10:53992200-53992600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr10:53992200-53992600	Enhancers	HUVEC	blood vessel
36	chr10:53992200-53992800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr10:53992200-53992800	Enhancers	Stomach Mucosa	stomach
38	chr10:53992400-53992600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr10:53992400-53992600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr10:53992400-53992600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr10:53992400-53992600	Enhancers	Fetal Intestine Small	intestine
42	chr10:53992400-53992600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr10:53992400-53992600	Enhancers	Hela-S3	cervix
44	chr10:53992400-53992600	Enhancers	HMEC	breast
45	chr10:53992400-53992600	Enhancers	NHEK	skin
46	chr10:53992400-53992800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr10:53992400-53992800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr10:53992400-53992800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr10:53992400-53992800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr10:53992400-53992800	Enhancers	Primary T cells from cord blood	blood

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