Variant report

Variant	esv1812410
Chromosome Location	chr18:14798777-14815324
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: 563 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:563 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548262537	chr18:14798787-14798788	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116802806	chr18:14798789-14798790	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530894574	chr18:14798802-14798803	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565803830	chr18:14798855-14798856	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140109462	chr18:14798860-14798861	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570947776	chr18:14798889-14798890	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141544229	chr18:14798900-14798901	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539603162	chr18:14798901-14798902	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546890733	chr18:14798909-14798910	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57761037	chr18:14798910-14798911	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs150898615	chr18:14798931-14798932	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554250741	chr18:14798937-14798938	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574500123	chr18:14798969-14798970	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557824295	chr18:14798975-14798976	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536741906	chr18:14798995-14798996	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557164097	chr18:14799002-14799003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183900475	chr18:14799025-14799026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577123380	chr18:14799031-14799032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545976652	chr18:14799033-14799034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369318132	chr18:14799040-14799041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536993823	chr18:14799113-14799114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573142419	chr18:14799142-14799143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188372495	chr18:14799147-14799148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573715815	chr18:14799152-14799153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139427917	chr18:14799162-14799163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531074616	chr18:14799164-14799165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573875765	chr18:14799171-14799172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191288940	chr18:14799176-14799177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9748457	chr18:14799190-14799191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9748468	chr18:14799192-14799193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546755400	chr18:14799220-14799221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377232700	chr18:14799225-14799226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201596581	chr18:14799240-14799241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184926918	chr18:14799249-14799250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548212416	chr18:14799283-14799284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567957349	chr18:14799311-14799312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537012765	chr18:14799312-14799313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556785914	chr18:14799324-14799325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570536435	chr18:14799347-14799348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541375540	chr18:14799361-14799362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539661847	chr18:14799386-14799387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551689796	chr18:14799410-14799411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150065739	chr18:14799451-14799452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573203900	chr18:14799459-14799460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189389794	chr18:14799463-14799464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555595543	chr18:14799471-14799472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575551730	chr18:14799477-14799478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182142297	chr18:14799500-14799501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564254497	chr18:14799501-14799502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12607816	chr18:14799529-14799530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14798200-14817600	Weak transcription	Osteobl	bone
2	chr18:14798600-14799000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:14798600-14799000	Enhancers	Placenta	Placenta
4	chr18:14799000-14817600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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