Variant report

Variant	esv2442048
Chromosome Location	chr10:20009376-20010823
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEBL-2	chr10:20010626-20011154	ENSG00000233968.1
2	lnc-NEBL-2	chr10:20010517-20011154	ENSG00000233968.2

Extended variants
information (count: 57 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564368593	chr10:20009473-20009474	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs188270655	chr10:20009511-20009512	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550301524	chr10:20009515-20009516	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs116901241	chr10:20009574-20009575	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs190425875	chr10:20009585-20009586	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs547648336	chr10:20009586-20009587	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565959731	chr10:20009593-20009594	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs182995711	chr10:20009598-20009599	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs557278982	chr10:20009618-20009619	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs187621615	chr10:20009622-20009623	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs551315412	chr10:20009634-20009635	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs569554182	chr10:20009635-20009636	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs536717191	chr10:20009641-20009642	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs555057166	chr10:20009642-20009643	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs573433612	chr10:20009792-20009793	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs535630016	chr10:20009810-20009811	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs192440768	chr10:20009816-20009817	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs76261545	chr10:20009828-20009829	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs185011116	chr10:20009914-20009915	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs564460913	chr10:20009915-20009916	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs377761797	chr10:20009925-20009926	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs200079888	chr10:20009933-20009934	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs576526714	chr10:20009946-20009947	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs543901451	chr10:20009972-20009973	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs367565831	chr10:20009978-20009979	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs529437712	chr10:20009979-20009980	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs547559111	chr10:20009998-20009999	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs56840611	chr10:20010037-20010038	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533206059	chr10:20010076-20010077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551408700	chr10:20010101-20010102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187494117	chr10:20010105-20010106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79782786	chr10:20010127-20010128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139079678	chr10:20010189-20010190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375756099	chr10:20010242-20010243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558141164	chr10:20010270-20010271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16919309	chr10:20010320-20010321	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572142813	chr10:20010430-20010431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111773931	chr10:20010431-20010432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377080844	chr10:20010457-20010458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534453467	chr10:20010496-20010497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192737704	chr10:20010498-20010499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116721395	chr10:20010558-20010559	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs540098703	chr10:20010562-20010563	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs558183629	chr10:20010575-20010576	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs146457995	chr10:20010577-20010578	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs374575115	chr10:20010581-20010582	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs543819257	chr10:20010593-20010594	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs184565910	chr10:20010615-20010616	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs574140383	chr10:20010626-20010627	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs541168979	chr10:20010690-20010691	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:20003400-20051400	Weak transcription	Fetal Intestine Large	intestine
2	chr10:20007800-20010000	Enhancers	HSMM	muscle
3	chr10:20008000-20014000	Weak transcription	Fetal Intestine Small	intestine
4	chr10:20008400-20009400	Enhancers	Primary hematopoietic stem cells	blood
5	chr10:20008400-20009400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr10:20008400-20010000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:20008800-20009400	Enhancers	Fetal Lung	lung
8	chr10:20008800-20009600	Enhancers	Osteobl	bone
9	chr10:20009000-20009400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:20009000-20010400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:20009000-20010400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:20009000-20016400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr10:20009200-20011000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:20009400-20009600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:20009400-20011000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr10:20009400-20014200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr10:20009600-20010800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:20010000-20011200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:20010400-20013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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