Variant report

Variant	nsv960219
Chromosome Location	chr18:14928912-14931771
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-3	chr18:14930444-14931880	XLOC_012636
2	lnc-ANKRD30B-3	chr18:14929910-14929997	XLOC_012636

Extended variants
information (count: 112 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74602395	chr18:14928912-14928913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76412723	chr18:14928914-14928915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537144557	chr18:14928917-14928918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374184377	chr18:14928923-14928924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190025105	chr18:14928949-14928950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545848036	chr18:14928956-14928957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559928636	chr18:14928977-14928978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182472739	chr18:14928998-14928999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373042749	chr18:14929045-14929046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573075848	chr18:14929129-14929130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541974099	chr18:14929132-14929133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75840148	chr18:14929133-14929134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73417160	chr18:14929148-14929149	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544297389	chr18:14929158-14929159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117704931	chr18:14929177-14929178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570028504	chr18:14929178-14929179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73417161	chr18:14929203-14929204	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188388591	chr18:14929263-14929264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191234977	chr18:14929270-14929271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73417163	chr18:14929291-14929292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs569346001	chr18:14929361-14929362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs786018	chr18:14929467-14929468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550679038	chr18:14929473-14929474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575383937	chr18:14929476-14929477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74668814	chr18:14929518-14929519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565897625	chr18:14929519-14929520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539279461	chr18:14929526-14929527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528640247	chr18:14929572-14929573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540742655	chr18:14929580-14929581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557951398	chr18:14929645-14929646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs786017	chr18:14929647-14929648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183085263	chr18:14929649-14929650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151304757	chr18:14929650-14929651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555681775	chr18:14929652-14929653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187421194	chr18:14929707-14929708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369724975	chr18:14929765-14929766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192065098	chr18:14929812-14929813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370086605	chr18:14929821-14929822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116879101	chr18:14929833-14929834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184877028	chr18:14929888-14929889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373861140	chr18:14929929-14929930	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs540204000	chr18:14929975-14929976	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs560286779	chr18:14930000-14930001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569560015	chr18:14930006-14930007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187683880	chr18:14930064-14930065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538053509	chr18:14930065-14930066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113149734	chr18:14930105-14930106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530225871	chr18:14930119-14930120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548801668	chr18:14930124-14930125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552025403	chr18:14930160-14930161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14920200-14933200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:14922200-14933000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr18:14925000-14931400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:14927800-14929400	Enhancers	Placenta	Placenta
5	chr18:14931200-14932000	Enhancers	Fetal Intestine Large	intestine
6	chr18:14931400-14931600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:14931600-14933200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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