Variant report

Variant	esv2542717
Chromosome Location	chr18:28069579-28072778
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 265 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370481913	chr18:28069603-28069604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35911878	chr18:28069606-28069607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536659983	chr18:28069625-28069626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116512464	chr18:28069652-28069653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568694736	chr18:28069653-28069654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34667742	chr18:28069668-28069669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs1442999	chr18:28069669-28069670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540366401	chr18:28069688-28069689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148800341	chr18:28069720-28069721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577346940	chr18:28069723-28069724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142037541	chr18:28069788-28069789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562860417	chr18:28069796-28069797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530289703	chr18:28069810-28069811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183868123	chr18:28069847-28069848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73413774	chr18:28069861-28069862	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527424882	chr18:28069863-28069864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551972824	chr18:28069904-28069905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570652877	chr18:28069929-28069930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73413777	chr18:28069954-28069955	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549965624	chr18:28069959-28069960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188992438	chr18:28069962-28069963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77111634	chr18:28069965-28069966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537727303	chr18:28069998-28069999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550833100	chr18:28070091-28070092	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs8089627	chr18:28070122-28070123	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs377223645	chr18:28070125-28070126	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117942043	chr18:28070154-28070155	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556337837	chr18:28070157-28070158	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558806977	chr18:28070161-28070162	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77838199	chr18:28070183-28070184	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114759936	chr18:28070186-28070187	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74657598	chr18:28070194-28070195	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78956087	chr18:28070197-28070198	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542151606	chr18:28070200-28070201	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139083987	chr18:28070232-28070233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144058028	chr18:28070286-28070287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545753288	chr18:28070305-28070306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564040106	chr18:28070309-28070310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113320898	chr18:28070312-28070313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535642840	chr18:28070314-28070315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114728213	chr18:28070322-28070323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550001824	chr18:28070351-28070352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146484259	chr18:28070361-28070362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139940254	chr18:28070382-28070383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193186639	chr18:28070410-28070411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565937278	chr18:28070455-28070456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533956556	chr18:28070460-28070461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185078963	chr18:28070499-28070500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190817697	chr18:28070505-28070506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113048822	chr18:28070511-28070512	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
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28066800-28073800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:28067200-28069800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr18:28068600-28069600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr18:28068600-28069800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:28068800-28069600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr18:28068800-28069800	Weak transcription	NHEK	skin
7	chr18:28068800-28070000	Weak transcription	HMEC	breast
8	chr18:28068800-28070000	Weak transcription	HSMM	muscle
9	chr18:28069600-28070200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:28069600-28070200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr18:28069800-28070200	Enhancers	K562	blood
12	chr18:28069800-28070400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:28069800-28070400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr18:28069800-28070400	Enhancers	NHEK	skin
15	chr18:28070000-28070200	Genic enhancers	HMEC	breast
16	chr18:28070200-28070400	Enhancers	HSMM	muscle
17	chr18:28070200-28071600	Weak transcription	HMEC	breast
18	chr18:28070200-28073800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:28072000-28072200	Enhancers	K562	blood

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