Variant report

Variant	esv2760487
Chromosome Location	chr18:14916966-14927873
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:14921268..14923858-chr18:14933447..14934992,2	K562	blood:
2	chr18:14919425..14921650-chr18:14925598..14927538,2	MCF-7	breast:
3	chr18:14919425..14921650-chr18:14925598..14927538,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30B-3	chr18:14918961-14919040	XLOC_012636

Extended variants
information (count: 458 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144900851	chr18:14916966-14916967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555629355	chr18:14917015-14917016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575566322	chr18:14917016-14917017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9952300	chr18:14917058-14917059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558352245	chr18:14917095-14917096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187740356	chr18:14917128-14917129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545890084	chr18:14917143-14917144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2139097	chr18:14917153-14917154	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1518582	chr18:14917169-14917170	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541889048	chr18:14917170-14917171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561950204	chr18:14917173-14917174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374130882	chr18:14917175-14917176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530857046	chr18:14917179-14917180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192422238	chr18:14917182-14917183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564322224	chr18:14917186-14917187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11661338	chr18:14917229-14917230	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184546332	chr18:14917238-14917239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144702474	chr18:14917273-14917274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535441372	chr18:14917294-14917295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57761867	chr18:14917305-14917306	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189068933	chr18:14917310-14917311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538546006	chr18:14917350-14917351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57597873	chr18:14917356-14917357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397945122	chr18:14917359-14917360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138960469	chr18:14917420-14917421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371416558	chr18:14917421-14917422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1518581	chr18:14917448-14917449	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs181389081	chr18:14917478-14917479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142185213	chr18:14917519-14917520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573010851	chr18:14917526-14917527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368383776	chr18:14917529-14917530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562749634	chr18:14917566-14917567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1518580	chr18:14917587-14917588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561691173	chr18:14917631-14917632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575579388	chr18:14917662-14917663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373659495	chr18:14917675-14917676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560284263	chr18:14917676-14917677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114375403	chr18:14917698-14917699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533149153	chr18:14917707-14917708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546520067	chr18:14917731-14917732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111933576	chr18:14917771-14917772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148153923	chr18:14917772-14917773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545921892	chr18:14917833-14917834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548931897	chr18:14917843-14917844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184009356	chr18:14917865-14917866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560450835	chr18:14917866-14917867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12455763	chr18:14917873-14917874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs552045205	chr18:14917892-14917893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189235273	chr18:14917898-14917899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142018121	chr18:14917899-14917900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14916400-14925200	Weak transcription	Spleen	Spleen
2	chr18:14917000-14917800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr18:14917800-14918800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr18:14918200-14928400	Weak transcription	Aorta	Aorta
5	chr18:14918800-14920600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr18:14918800-14921000	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr18:14919000-14920200	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr18:14919000-14920600	Enhancers	HepG2	liver
9	chr18:14919000-14921000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:14919200-14919600	Enhancers	Colonic Mucosa	Colon
11	chr18:14919400-14922200	Enhancers	Liver	Liver
12	chr18:14919600-14921200	Weak transcription	Colonic Mucosa	Colon
13	chr18:14919800-14920200	Enhancers	Pancreas	Pancrea
14	chr18:14920000-14920200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:14920000-14920200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr18:14920000-14920200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr18:14920000-14922200	Enhancers	Duodenum Mucosa	Duodenum
18	chr18:14920200-14920600	Enhancers	Fetal Intestine Small	intestine
19	chr18:14920200-14921200	Weak transcription	Pancreas	Pancrea
20	chr18:14920200-14933200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr18:14920400-14921000	Enhancers	Fetal Intestine Large	intestine
22	chr18:14920600-14920800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr18:14920800-14921200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr18:14921000-14921400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr18:14921000-14921600	Weak transcription	Fetal Intestine Large	intestine
26	chr18:14921200-14921400	Enhancers	Pancreas	Pancrea
27	chr18:14921200-14921600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr18:14921200-14922000	Enhancers	Colonic Mucosa	Colon
29	chr18:14921200-14923200	Enhancers	Placenta	Placenta
30	chr18:14921400-14921600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr18:14921400-14921600	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr18:14921600-14921800	Enhancers	Fetal Intestine Large	intestine
33	chr18:14921600-14922000	Enhancers	Fetal Intestine Small	intestine
34	chr18:14921600-14922000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr18:14921600-14923000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr18:14922000-14922200	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr18:14922000-14924600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr18:14922200-14925200	Weak transcription	Liver	Liver
39	chr18:14922200-14925200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr18:14922200-14933000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr18:14923000-14925200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr18:14923600-14925800	Enhancers	Osteobl	bone
43	chr18:14924000-14924600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr18:14924600-14925000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr18:14924800-14925000	Enhancers	NHDF-Ad	bronchial
46	chr18:14925000-14925400	Enhancers	Adipose Nuclei	Adipose
47	chr18:14925000-14925400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr18:14925000-14926000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr18:14925000-14931400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr18:14925200-14925400	Enhancers	Liver	Liver

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