Variant report

Variant	nsv130892
Chromosome Location	chr18:39634091-39634122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58838212	chr18:39634092-39634093	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201901501	chr18:39634094-39634095	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56211042	chr18:39634095-39634096	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs4988830	chr18:39634096-39634097	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28526497	chr18:39634098-39634099	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4988829	chr18:39634102-39634103	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs56148882	chr18:39634105-39634106	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59790618	chr18:39634109-39634110	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143158754	chr18:39634112-39634113	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs60424202	chr18:39634114-39634115	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Prostate cancer	22341455	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39548400-39670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:39572000-39654400	Weak transcription	Colonic Mucosa	Colon
3	chr18:39578400-39663200	Weak transcription	Fetal Heart	heart
4	chr18:39581000-39647400	Weak transcription	Spleen	Spleen
5	chr18:39581000-39666200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:39585000-39646000	Weak transcription	Pancreas	Pancrea
7	chr18:39585000-39658600	Weak transcription	Small Intestine	intestine
8	chr18:39586600-39647400	Weak transcription	Thymus	Thymus
9	chr18:39590600-39668000	Weak transcription	Esophagus	oesophagus
10	chr18:39594600-39638800	Weak transcription	K562	blood
11	chr18:39599000-39646000	Weak transcription	Psoas Muscle	Psoas
12	chr18:39601600-39668200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr18:39607600-39634600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr18:39612200-39647400	Weak transcription	Aorta	Aorta
15	chr18:39612200-39666400	Weak transcription	Gastric	stomach
16	chr18:39612200-39669800	Weak transcription	Fetal Stomach	stomach
17	chr18:39612200-39670000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:39615000-39649600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr18:39615400-39663400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr18:39618000-39647400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr18:39619200-39656400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:39619400-39647600	Weak transcription	Brain Germinal Matrix	brain
23	chr18:39619600-39645600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr18:39619600-39647400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr18:39619800-39662200	Weak transcription	Right Ventricle	heart
26	chr18:39620200-39645800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr18:39620800-39664200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr18:39621200-39646200	Weak transcription	Lung	lung
29	chr18:39621200-39657200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr18:39621600-39644800	Weak transcription	Ovary	ovary
31	chr18:39621800-39644800	Weak transcription	Placenta	Placenta
32	chr18:39622200-39638400	Weak transcription	HSMMtube	muscle
33	chr18:39622200-39649400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr18:39622400-39634600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr18:39628600-39666200	Weak transcription	A549	lung
36	chr18:39628800-39643800	Weak transcription	NHDF-Ad	bronchial
37	chr18:39629000-39649600	Weak transcription	NHLF	lung
38	chr18:39630000-39646000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr18:39630200-39638800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr18:39630600-39638400	Weak transcription	Dnd41	blood
41	chr18:39630600-39647400	Weak transcription	Colon Smooth Muscle	Colon
42	chr18:39630600-39658600	Weak transcription	Hela-S3	cervix
43	chr18:39630800-39643200	Weak transcription	Osteobl	bone
44	chr18:39630800-39646200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr18:39630800-39650200	Weak transcription	Fetal Kidney	kidney
46	chr18:39631000-39634200	Weak transcription	Fetal Muscle Leg	muscle
47	chr18:39631000-39634600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr18:39631000-39639000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr18:39631000-39639400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr18:39631000-39639800	Weak transcription	Duodenum Mucosa	Duodenum

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