Variant report

Variant	esv1994866
Chromosome Location	chr18:39196905-39197318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201150001	chr18:39196918-39196919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185217585	chr18:39196952-39196953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28374486	chr18:39196956-39196957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs35647859	chr18:39196972-39196973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35109437	chr18:39196975-39196976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs112688165	chr18:39197056-39197057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568454544	chr18:39197058-39197059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141223326	chr18:39197089-39197090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188765501	chr18:39197090-39197091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552853957	chr18:39197092-39197093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199521102	chr18:39197123-39197124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35459195	chr18:39197124-39197125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569090135	chr18:39197172-39197173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539988964	chr18:39197252-39197253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558389757	chr18:39197292-39197293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576824046	chr18:39197293-39197294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534330244	chr18:39197295-39197296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75435593	chr18:39197300-39197301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150740153	chr18:39197301-39197302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139908246	chr18:39197305-39197306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563511941	chr18:39197312-39197313	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39182600-39204400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:39185000-39209600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:39190800-39204000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr18:39190800-39210200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:39193400-39197200	Weak transcription	Fetal Lung	lung
6	chr18:39193800-39200600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:39196200-39197200	Weak transcription	Fetal Heart	heart
8	chr18:39197200-39197400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:39197200-39197400	Enhancers	Fetal Heart	heart
10	chr18:39197200-39198400	Enhancers	Fetal Lung	lung
11	chr18:39197200-39198800	Enhancers	Gastric	stomach

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