Variant report

Variant	esv1146277
Chromosome Location	chr18:45389689-45389690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:57916192..57918375-chr18:45387752..45390655,2	MCF-7	breast:
2	chr18:45388105..45390269-chr18:45393560..45395389,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs398079445	chr18:45389689-45389690	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs398032743	chr18:45389690-45389691	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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	21297112	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
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Asthma	20841430	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45345400-45400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:45366200-45390000	Weak transcription	Colonic Mucosa	Colon
3	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:45372200-45396000	Weak transcription	NHLF	lung
5	chr18:45382200-45420400	Weak transcription	Right Ventricle	heart
6	chr18:45383000-45396600	Strong transcription	Hela-S3	cervix
7	chr18:45383600-45392400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:45384200-45398800	Weak transcription	Pancreas	Pancrea
9	chr18:45384200-45421200	Weak transcription	Gastric	stomach
10	chr18:45384200-45423000	Weak transcription	Lung	lung
11	chr18:45384400-45390200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr18:45384400-45390200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr18:45384400-45392200	Strong transcription	HSMM	muscle
14	chr18:45384400-45397600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr18:45384400-45397800	Weak transcription	Small Intestine	intestine
16	chr18:45384400-45400200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr18:45384400-45401200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr18:45384400-45410200	Weak transcription	Aorta	Aorta
19	chr18:45384400-45419600	Weak transcription	K562	blood
20	chr18:45384400-45423000	Weak transcription	Spleen	Spleen
21	chr18:45384600-45396600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr18:45384600-45399000	Weak transcription	Right Atrium	heart
23	chr18:45384800-45392200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:45384800-45392600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr18:45384800-45396800	Weak transcription	Colon Smooth Muscle	Colon
26	chr18:45384800-45400200	Weak transcription	Brain Substantia Nigra	brain
27	chr18:45384800-45407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr18:45384800-45418400	Weak transcription	Fetal Brain Male	brain
29	chr18:45385400-45389800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr18:45385400-45396800	Weak transcription	Stomach Mucosa	stomach
31	chr18:45385400-45400000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr18:45385600-45389800	Weak transcription	Adipose Nuclei	Adipose
33	chr18:45385600-45400000	Weak transcription	Brain Hippocampus Middle	brain
34	chr18:45385600-45420800	Weak transcription	Brain Germinal Matrix	brain
35	chr18:45385800-45389800	Weak transcription	HMEC	breast
36	chr18:45385800-45394000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr18:45385800-45396000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr18:45386200-45389800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr18:45386200-45391200	Strong transcription	A549	lung
40	chr18:45386200-45392600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr18:45386400-45401800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr18:45386600-45394200	Weak transcription	Osteobl	bone
43	chr18:45386600-45395800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr18:45386600-45396800	Weak transcription	NHEK	skin
45	chr18:45386600-45397400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:45386800-45392400	Strong transcription	Fetal Lung	lung
47	chr18:45386800-45393400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr18:45386800-45394800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr18:45386800-45395600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr18:45386800-45395800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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