Variant report

Variant	nsv960220
Chromosome Location	chr18:14931771-14935356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:14921268..14923858-chr18:14933447..14934992,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30B-3	chr18:14930444-14931880	XLOC_012636

Extended variants
information (count: 151 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556736255	chr18:14931816-14931817	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs189226121	chr18:14931841-14931842	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs199985009	chr18:14931903-14931904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539062177	chr18:14931906-14931907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4890738	chr18:14931922-14931923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4890739	chr18:14931933-14931934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181587918	chr18:14931935-14931936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201233004	chr18:14931938-14931939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79842064	chr18:14931954-14931955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62087277	chr18:14931960-14931961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62087278	chr18:14931973-14931974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62087279	chr18:14931974-14931975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62087280	chr18:14931976-14931977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200186395	chr18:14931982-14931983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62087281	chr18:14932003-14932004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59660406	chr18:14932011-14932012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184673131	chr18:14932022-14932023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34138197	chr18:14932028-14932029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561533519	chr18:14932046-14932047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565395918	chr18:14932082-14932083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542314086	chr18:14932109-14932110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562273686	chr18:14932110-14932111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531193794	chr18:14932120-14932121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376275532	chr18:14932130-14932131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369513382	chr18:14932131-14932132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372878209	chr18:14932135-14932136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376354905	chr18:14932158-14932159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370482643	chr18:14932166-14932167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368842776	chr18:14932224-14932225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186519393	chr18:14932226-14932227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527587263	chr18:14932258-14932259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149701436	chr18:14932390-14932391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567446341	chr18:14932391-14932392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536104297	chr18:14932392-14932393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113155183	chr18:14932396-14932397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113128317	chr18:14932397-14932398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538998730	chr18:14932409-14932410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544638289	chr18:14932428-14932429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374319264	chr18:14932460-14932461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376946892	chr18:14932484-14932485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371181855	chr18:14932491-14932492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540567315	chr18:14932492-14932493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558009708	chr18:14932503-14932504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560177446	chr18:14932573-14932574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs118141520	chr18:14932579-14932580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368378522	chr18:14932583-14932584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117025365	chr18:14932586-14932587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574956450	chr18:14932596-14932597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543646065	chr18:14932638-14932639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145649287	chr18:14932674-14932675	Weak transcription Enhancers	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:22 , 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	chr18:14931200-14932000	Enhancers	Fetal Intestine Large	intestine
4	chr18:14931600-14933200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:14932600-14933600	Enhancers	Fetal Intestine Large	intestine
6	chr18:14933000-14935600	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr18:14933200-14933400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:14933200-14933400	Enhancers	Colonic Mucosa	Colon
9	chr18:14933200-14934800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr18:14933200-14937200	Enhancers	Duodenum Mucosa	Duodenum
11	chr18:14933200-14937200	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr18:14933200-14937800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr18:14933400-14933600	Flanking Active TSS	Colonic Mucosa	Colon
14	chr18:14933400-14934000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr18:14933600-14936200	Enhancers	Colonic Mucosa	Colon
16	chr18:14934000-14934400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:14934200-14934600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr18:14934400-14934600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:14934400-14935600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:14934400-14937000	Enhancers	Fetal Intestine Large	intestine
21	chr18:14934600-14940000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr18:14934800-14936000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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