Variant report

Variant	esv3479840
Chromosome Location	chr10:19994846-19999644
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	chr10:19999257-20000217	ENSG00000233968.1

Extended variants
information (count: 203 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111742655	chr10:19994882-19994883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140641345	chr10:19994923-19994924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187744309	chr10:19995070-19995071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573166103	chr10:19995071-19995072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192368305	chr10:19995109-19995110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184683792	chr10:19995126-19995127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188522671	chr10:19995151-19995152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543710648	chr10:19995168-19995169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181342129	chr10:19995181-19995182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530001031	chr10:19995234-19995235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548226163	chr10:19995274-19995275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560051643	chr10:19995283-19995284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373769086	chr10:19995288-19995289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184289157	chr10:19995359-19995360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189056141	chr10:19995360-19995361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568022653	chr10:19995362-19995363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182280361	chr10:19995363-19995364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187273355	chr10:19995387-19995388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535464457	chr10:19995436-19995437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569395692	chr10:19995438-19995439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190878335	chr10:19995442-19995443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28546585	chr10:19995458-19995459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs117342738	chr10:19995492-19995493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533948093	chr10:19995494-19995495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142711569	chr10:19995516-19995517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575331411	chr10:19995519-19995520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576907100	chr10:19995541-19995542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544348574	chr10:19995559-19995560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs118085464	chr10:19995560-19995561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563601050	chr10:19995574-19995575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542057997	chr10:19995583-19995584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560208533	chr10:19995606-19995607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28452201	chr10:19995607-19995608	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545799362	chr10:19995649-19995650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180872811	chr10:19995681-19995682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146948987	chr10:19995684-19995685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537237932	chr10:19995685-19995686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186273582	chr10:19995721-19995722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556689972	chr10:19995743-19995744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569387635	chr10:19995795-19995796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138025401	chr10:19995872-19995873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548830306	chr10:19995899-19995900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376912635	chr10:19995927-19995928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201129662	chr10:19995938-19995939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141828196	chr10:19995970-19995971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567039426	chr10:19995998-19995999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577369239	chr10:19996002-19996003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138123150	chr10:19996044-19996045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11011187	chr10:19996066-19996067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11011188	chr10:19996068-19996069	Enhancers Weak transcription	n/a	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19986800-20000400	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19989200-20000400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19992400-20000600	Weak transcription	Aorta	Aorta
4	chr10:19994200-19995000	Enhancers	NH-A	brain
5	chr10:19994400-19995000	Weak transcription	Fetal Intestine Large	intestine
6	chr10:19995000-19995200	Strong transcription	Fetal Intestine Large	intestine
7	chr10:19995200-19996200	Enhancers	Placenta	Placenta
8	chr10:19995200-20000000	Weak transcription	Fetal Intestine Large	intestine
9	chr10:19995600-19996400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:19995800-19996200	Enhancers	HMEC	breast

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