Variant report

Variant	esv998622
Chromosome Location	chr18:30293281-30304579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:30293724..30294417-chr18:30499835..30500382,2	MCF-7	breast:
2	chr18:30294211..30294986-chr18:30781366..30782176,2	MCF-7	breast:
3	chr18:30294450..30295198-chr18:30499539..30500758,7	MCF-7	breast:
4	chr18:30295209..30296136-chr18:30349960..30350509,2	MCF-7	breast:
5	chr18:30294270..30295293-chr18:30499582..30500548,5	MCF-7	breast:
6	chr18:30262728..30263606-chr18:30294291..30295005,2	MCF-7	breast:

Extended variants
information (count: 428 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564960076	chr18:30293293-30293294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577056761	chr18:30293422-30293423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544224909	chr18:30293438-30293439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562423087	chr18:30293439-30293440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548198406	chr18:30293443-30293444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12956194	chr18:30293479-30293480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs142726604	chr18:30293560-30293561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528661924	chr18:30293606-30293607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546824929	chr18:30293663-30293664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9946664	chr18:30293703-30293704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538793276	chr18:30293706-30293707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191910877	chr18:30293708-30293709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550663239	chr18:30293753-30293754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2173180	chr18:30293767-30293768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs151004208	chr18:30293775-30293776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200242317	chr18:30293794-30293795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74522610	chr18:30293817-30293818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570317686	chr18:30293827-30293828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554828179	chr18:30293859-30293860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117216774	chr18:30293880-30293881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184114240	chr18:30293955-30293956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143762528	chr18:30293996-30293997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115051471	chr18:30294017-30294018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187280756	chr18:30294028-30294029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544282242	chr18:30294052-30294053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562585205	chr18:30294121-30294122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574343611	chr18:30294124-30294125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541487051	chr18:30294162-30294163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561610819	chr18:30294204-30294205	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs35594951	chr18:30294238-30294239	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs537013724	chr18:30294271-30294272	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs546786529	chr18:30294337-30294338	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs139277764	chr18:30294354-30294355	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs145344660	chr18:30294378-30294379	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550632731	chr18:30294383-30294384	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs569281699	chr18:30294469-30294470	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs75514354	chr18:30294500-30294501	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs555906832	chr18:30294503-30294504	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs1039142	chr18:30294510-30294511	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548336545	chr18:30294522-30294523	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs11873557	chr18:30294529-30294530	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534035839	chr18:30294568-30294569	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs16963733	chr18:30294570-30294571	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147656521	chr18:30294593-30294594	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs73955260	chr18:30294601-30294602	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs142434679	chr18:30294639-30294640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192109358	chr18:30294662-30294663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116978382	chr18:30294668-30294669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1039143	chr18:30294673-30294674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565001721	chr18:30294681-30294682	Weak transcription Enhancers	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30286200-30294200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr18:30288400-30299400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:30293000-30294200	Weak transcription	Primary B cells from cord blood	blood
4	chr18:30293200-30294200	Weak transcription	HepG2	liver
5	chr18:30294000-30295200	Enhancers	Dnd41	blood
6	chr18:30294200-30294400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:30294200-30294800	Enhancers	Primary B cells from cord blood	blood
8	chr18:30294200-30294800	Enhancers	Primary B cells from peripheral blood	blood
9	chr18:30294200-30295400	Enhancers	HepG2	liver
10	chr18:30294400-30294600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr18:30294400-30294600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:30294400-30295000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr18:30294600-30295000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:30294800-30299600	Weak transcription	Primary B cells from cord blood	blood
15	chr18:30294800-30306800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr18:30295400-30299600	Weak transcription	HepG2	liver
17	chr18:30299400-30301400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:30299600-30301200	Strong transcription	HepG2	liver
19	chr18:30299600-30305800	Strong transcription	Primary B cells from cord blood	blood
20	chr18:30300600-30301400	Enhancers	Fetal Heart	heart
21	chr18:30301200-30307800	Weak transcription	HepG2	liver
22	chr18:30301400-30304800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:30304200-30304600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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