Variant report

Variant	esv3316636
Chromosome Location	chr18:30497305-30503632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:30294270..30295293-chr18:30499582..30500548,5	MCF-7	breast:
2	chr18:30479602..30480672-chr18:30499517..30500435,5	MCF-7	breast:
3	chr18:30492890..30494424-chr18:30498589..30500639,2	MCF-7	breast:
4	chr18:30294450..30295198-chr18:30499539..30500758,7	MCF-7	breast:
5	chr18:30479533..30480412-chr18:30499540..30500172,2	MCF-7	breast:
6	chr18:30155970..30156491-chr18:30499440..30500054,2	MCF-7	breast:
7	chr18:30492146..30494495-chr18:30497517..30499760,2	K562	blood:
8	chr18:30293724..30294417-chr18:30499835..30500382,2	MCF-7	breast:

No data

Extended variants
information (count: 245 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28521257	chr18:30497307-30497308	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139513259	chr18:30497376-30497377	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149937433	chr18:30497400-30497401	Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544409348	chr18:30497409-30497410	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539531713	chr18:30497411-30497412	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185164346	chr18:30497428-30497429	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188436106	chr18:30497571-30497572	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78246631	chr18:30497580-30497581	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193183198	chr18:30497611-30497612	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs80233043	chr18:30497632-30497633	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373177529	chr18:30497676-30497677	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184158211	chr18:30497686-30497687	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559267208	chr18:30497687-30497688	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533088658	chr18:30497699-30497700	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35749937	chr18:30497706-30497707	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544774061	chr18:30497721-30497722	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188840928	chr18:30497796-30497797	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180704784	chr18:30497842-30497843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs202032959	chr18:30497848-30497849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550076093	chr18:30497949-30497950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115989559	chr18:30498016-30498017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529536225	chr18:30498031-30498032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555805319	chr18:30498034-30498035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548001055	chr18:30498055-30498056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78219105	chr18:30498083-30498084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74597432	chr18:30498086-30498087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566129294	chr18:30498143-30498144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543628636	chr18:30498217-30498218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370679521	chr18:30498227-30498228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34542084	chr18:30498237-30498238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75909618	chr18:30498239-30498240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574467733	chr18:30498251-30498252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115712829	chr18:30498256-30498257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9960492	chr18:30498298-30498299	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs555777543	chr18:30498405-30498406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148699813	chr18:30498441-30498442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558356274	chr18:30498454-30498455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540958472	chr18:30498455-30498456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553179880	chr18:30498490-30498491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142209262	chr18:30498512-30498513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183792429	chr18:30498554-30498555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146559112	chr18:30498556-30498557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574913450	chr18:30498571-30498572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190530050	chr18:30498598-30498599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1941265	chr18:30498621-30498622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs62090726	chr18:30498678-30498679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547730917	chr18:30498842-30498843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559908442	chr18:30498843-30498844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533332599	chr18:30498860-30498861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9961243	chr18:30498878-30498879	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30495800-30498600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr18:30495800-30498600	Weak transcription	Fetal Brain Male	brain
3	chr18:30496400-30499800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr18:30497200-30497400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:30497400-30497800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:30497600-30500200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:30498400-30500400	Enhancers	Primary B cells from cord blood	blood
8	chr18:30498600-30499200	Enhancers	Fetal Brain Male	brain
9	chr18:30498600-30500200	Enhancers	Primary B cells from peripheral blood	blood
10	chr18:30498800-30500000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:30499600-30502000	Enhancers	HepG2	liver
12	chr18:30499800-30500000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:30499800-30501000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:30500000-30500200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr18:30500000-30502200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:30500000-30502800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr18:30500000-30503200	Enhancers	NHEK	skin
18	chr18:30500200-30500600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:30500200-30500800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:30500200-30501000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr18:30500200-30502000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr18:30500200-30502200	Enhancers	HMEC	breast
23	chr18:30500400-30502400	Weak transcription	Primary B cells from cord blood	blood
24	chr18:30500400-30504000	Enhancers	HSMM	muscle
25	chr18:30500600-30502200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:30500600-30502400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr18:30500600-30503800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr18:30500800-30501000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr18:30500800-30501000	Enhancers	NH-A	brain
30	chr18:30500800-30502200	Enhancers	Hela-S3	cervix
31	chr18:30500800-30502200	Enhancers	HUVEC	blood vessel
32	chr18:30500800-30503400	Enhancers	Osteobl	bone
33	chr18:30500800-30503600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:30500800-30503600	Enhancers	HSMMtube	muscle
35	chr18:30501000-30501200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:30501000-30501200	Flanking Active TSS	NHDF-Ad	bronchial
37	chr18:30501000-30501400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr18:30501000-30501400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr18:30501000-30501400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr18:30501000-30501400	Flanking Active TSS	NH-A	brain
41	chr18:30501000-30501600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr18:30501000-30502000	Enhancers	Dnd41	blood
43	chr18:30501000-30502200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr18:30501000-30502400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr18:30501200-30501400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr18:30501200-30502000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr18:30501200-30502000	Enhancers	NHDF-Ad	bronchial
48	chr18:30501200-30502200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr18:30501200-30503200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr18:30501400-30501800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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