Variant report

Variant	esv2453134
Chromosome Location	chr18:30846276-30847940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr18:30847590-30847621	K562	blood:	n/a	n/a

Variant related genes	Relation type
CCDC178	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547646381	chr18:30846315-30846316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186658867	chr18:30846328-30846329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372370438	chr18:30846329-30846330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544010641	chr18:30846400-30846401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4572484	chr18:30846427-30846428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs143836106	chr18:30846453-30846454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535533042	chr18:30846461-30846462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545261405	chr18:30846464-30846465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549027198	chr18:30846466-30846467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142204665	chr18:30846475-30846476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34523509	chr18:30846476-30846477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60948858	chr18:30846479-30846480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538737639	chr18:30846504-30846505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190348638	chr18:30846529-30846530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572490985	chr18:30846565-30846566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12966906	chr18:30846591-30846592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4319841	chr18:30846594-30846595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182232927	chr18:30846618-30846619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577891716	chr18:30846662-30846663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113831665	chr18:30846673-30846674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543714518	chr18:30846689-30846690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562096205	chr18:30846788-30846789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186938458	chr18:30846856-30846857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191021231	chr18:30846857-30846858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201794599	chr18:30846859-30846860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369413666	chr18:30846879-30846880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9965081	chr18:30846895-30846896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs145094687	chr18:30846911-30846912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376362373	chr18:30846913-30846914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375342485	chr18:30846923-30846924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139023653	chr18:30846937-30846938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369246083	chr18:30846939-30846940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371081933	chr18:30846940-30846941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377242750	chr18:30846961-30846962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140707449	chr18:30846965-30846966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369286882	chr18:30846966-30846967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547585462	chr18:30846971-30846972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373519668	chr18:30847001-30847002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202226400	chr18:30847042-30847043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368935674	chr18:30847056-30847057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184060523	chr18:30847078-30847079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548547349	chr18:30847101-30847102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550103770	chr18:30847106-30847107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113296023	chr18:30847133-30847134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201204686	chr18:30847134-30847135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535833428	chr18:30847147-30847148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370888438	chr18:30847149-30847150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34061876	chr18:30847151-30847152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200760306	chr18:30847156-30847157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376242234	chr18:30847167-30847168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	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
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30844800-30849000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:30845000-30848800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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