Variant report

Variant	esv19254
Chromosome Location	chr18:14799518-14815415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30B-8	chr18:14808671-14808730	NONHSAT058529
2	lnc-ANKRD30B-8	chr18:14808550-14808578	NONHSAT058529

Variant related genes	Relation type
GOLGA3	miRNA target sites
GNS	miRNA target sites

Extended variants
information (count: 522 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12607816	chr18:14799529-14799530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147659994	chr18:14799543-14799544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375939897	chr18:14799558-14799559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560307972	chr18:14799561-14799562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10775421	chr18:14799567-14799568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs45547337	chr18:14799618-14799619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115564547	chr18:14799669-14799670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374205580	chr18:14799675-14799676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114531101	chr18:14799678-14799679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10775422	chr18:14799711-14799712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374756929	chr18:14799743-14799744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74193924	chr18:14799756-14799757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58820145	chr18:14799762-14799763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189434179	chr18:14799784-14799785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550562206	chr18:14799790-14799791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549449351	chr18:14799795-14799796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116617668	chr18:14799802-14799803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561633612	chr18:14799807-14799808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147913745	chr18:14799809-14799810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115975013	chr18:14799822-14799823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566557838	chr18:14799926-14799927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528651516	chr18:14799942-14799943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142164115	chr18:14799957-14799958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143147544	chr18:14799984-14799985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555394787	chr18:14800016-14800017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181950797	chr18:14800022-14800023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537885551	chr18:14800032-14800033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557706433	chr18:14800058-14800059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577760075	chr18:14800088-14800089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540316703	chr18:14800093-14800094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560176384	chr18:14800108-14800109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574157190	chr18:14800121-14800122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543180629	chr18:14800175-14800176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563056621	chr18:14800182-14800183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374544473	chr18:14800232-14800233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532018314	chr18:14800248-14800249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9797429	chr18:14800292-14800293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533091863	chr18:14800295-14800296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533100436	chr18:14800306-14800307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546721711	chr18:14800317-14800318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9797347	chr18:14800362-14800363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551393905	chr18:14800380-14800381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569708904	chr18:14800396-14800397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371061683	chr18:14800424-14800425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75147893	chr18:14800467-14800468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549145369	chr18:14800480-14800481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569083194	chr18:14800514-14800515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537743320	chr18:14800534-14800535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150382302	chr18:14800574-14800575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59693691	chr18:14800610-14800611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14798200-14817600	Weak transcription	Osteobl	bone
2	chr18:14799000-14817600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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