Variant report

Variant	esv3442186
Chromosome Location	chr18:29775504-29778302
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	CTCF	chr18:29776752-29776847	H1-hESC	embryonic stem cell:	n/a	chr18:29776775-29776796 chr18:29776780-29776798 chr18:29776782-29776795
2	CTCF	chr18:29776620-29776770	HepG2	liver:	n/a	n/a
3	MYC	chr18:29776551-29776590	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr18:29776524-29776716	MCF-7	breast:	n/a	n/a
5	MYC	chr18:29778084-29778189	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr18:29776644-29776693	MCF-7	breast:	n/a	n/a
7	POLR2A	chr18:29776476-29776653	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29777158..29779490-chr18:29781970..29783984,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265279	TF binding region

Extended variants
information (count: 117 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371959992	chr18:29775507-29775508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539309066	chr18:29775532-29775533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9950695	chr18:29775533-29775534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569234113	chr18:29775547-29775548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184393736	chr18:29775573-29775574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374510355	chr18:29775589-29775590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189259413	chr18:29775636-29775637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182261902	chr18:29775663-29775664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185599862	chr18:29775687-29775688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16962793	chr18:29775698-29775699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188893422	chr18:29775702-29775703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558297849	chr18:29775726-29775727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576751268	chr18:29775727-29775728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561648451	chr18:29775785-29775786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181584647	chr18:29775824-29775825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567262177	chr18:29775856-29775857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149767879	chr18:29775865-29775866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529108508	chr18:29775897-29775898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548192374	chr18:29775948-29775949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370677780	chr18:29775964-29775965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566828596	chr18:29775975-29775976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574346365	chr18:29775979-29775980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541933498	chr18:29775995-29775996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559974648	chr18:29775998-29775999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527344144	chr18:29776001-29776002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547236398	chr18:29776017-29776018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565430998	chr18:29776023-29776024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186244029	chr18:29776026-29776027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551285785	chr18:29776072-29776073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61743976	chr18:29776137-29776138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs190173839	chr18:29776197-29776198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548698581	chr18:29776204-29776205	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs565432823	chr18:29776210-29776211	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs61742129	chr18:29776211-29776212	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs61742081	chr18:29776222-29776223	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558336250	chr18:29776256-29776257	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs576590988	chr18:29776257-29776258	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs181356756	chr18:29776276-29776277	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs185970997	chr18:29776281-29776282	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs574405414	chr18:29776306-29776307	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs541474819	chr18:29776315-29776316	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs190840064	chr18:29776339-29776340	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs572048550	chr18:29776410-29776411	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs545874444	chr18:29776435-29776436	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs113365266	chr18:29776456-29776457	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs565518274	chr18:29776462-29776463	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs534063850	chr18:29776478-29776479	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs532750294	chr18:29776511-29776512	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs551324492	chr18:29776521-29776522	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs563026364	chr18:29776531-29776532	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29772200-29780400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr18:29772600-29776200	Weak transcription	Aorta	Aorta
3	chr18:29774800-29777200	Weak transcription	Right Ventricle	heart
4	chr18:29774800-29780200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:29776200-29776800	ZNF genes & repeats	Aorta	Aorta
6	chr18:29776400-29777000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:29776800-29782200	Weak transcription	Aorta	Aorta

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