Variant report

Variant	esv2754126
Chromosome Location	chr18:39183202-39194702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 442 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:442 , 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	rs9954713	chr18:39183202-39183203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531117562	chr18:39183209-39183210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546045783	chr18:39183235-39183236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564659891	chr18:39183246-39183247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145498348	chr18:39183252-39183253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9954840	chr18:39183321-39183322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184807076	chr18:39183323-39183324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190730140	chr18:39183330-39183331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181976812	chr18:39183358-39183359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16975044	chr18:39183373-39183374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs537268593	chr18:39183374-39183375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9965988	chr18:39183398-39183399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112786590	chr18:39183421-39183422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188989280	chr18:39183434-39183435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553444697	chr18:39183443-39183444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141358418	chr18:39183474-39183475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181593815	chr18:39183479-39183480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557649975	chr18:39183513-39183514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185672567	chr18:39183555-39183556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190776777	chr18:39183571-39183572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181666327	chr18:39183584-39183585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532113575	chr18:39183608-39183609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540721830	chr18:39183679-39183680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558948680	chr18:39183682-39183683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145087466	chr18:39183713-39183714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114978548	chr18:39183728-39183729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185953652	chr18:39183742-39183743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530671577	chr18:39183771-39183772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375264766	chr18:39183872-39183873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72907817	chr18:39183886-39183887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570652018	chr18:39183959-39183960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535172659	chr18:39183963-39183964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547099670	chr18:39183976-39183977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386802645	chr18:39183989-39183990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28545764	chr18:39183990-39183991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs372327459	chr18:39183999-39184000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386802646	chr18:39184057-39184058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140746186	chr18:39184059-39184060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539732563	chr18:39184060-39184061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10502772	chr18:39184096-39184097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs76100239	chr18:39184132-39184133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540764567	chr18:39184151-39184152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35669435	chr18:39184169-39184170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559040173	chr18:39184199-39184200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188042142	chr18:39184209-39184210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541814592	chr18:39184251-39184252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562408908	chr18:39184278-39184279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72907819	chr18:39184344-39184345	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs530876633	chr18:39184400-39184401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552498116	chr18:39184402-39184403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39174800-39190400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr18:39182600-39204400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:39183000-39184000	Weak transcription	Fetal Heart	heart
4	chr18:39184000-39186200	Enhancers	Fetal Heart	heart
5	chr18:39185000-39209600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:39190000-39190400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr18:39190400-39190800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr18:39190400-39190800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr18:39190400-39191000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr18:39190800-39204000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr18:39190800-39210200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr18:39191000-39192000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr18:39192000-39194000	Enhancers	Fetal Heart	heart
14	chr18:39193000-39193400	Enhancers	Fetal Lung	lung
15	chr18:39193200-39193800	Enhancers	Fetal Thymus	thymus
16	chr18:39193400-39197200	Weak transcription	Fetal Lung	lung
17	chr18:39193800-39200600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr18:39194000-39195400	Weak transcription	Fetal Heart	heart

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