Variant report

Variant	esv3415287
Chromosome Location	chr18:45375954-45378452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191553047	chr18:45375974-45375975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577241213	chr18:45376008-45376009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546283518	chr18:45376009-45376010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553080951	chr18:45376022-45376023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145744265	chr18:45376028-45376029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542092440	chr18:45376030-45376031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562078064	chr18:45376076-45376077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368085947	chr18:45376106-45376107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531124749	chr18:45376107-45376108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148935094	chr18:45376111-45376112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184073560	chr18:45376117-45376118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549229471	chr18:45376121-45376122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62086537	chr18:45376132-45376133	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569068903	chr18:45376133-45376134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141161579	chr18:45376156-45376157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs8088460	chr18:45376212-45376213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144834850	chr18:45376262-45376263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568329252	chr18:45376318-45376319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537367086	chr18:45376331-45376332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369420589	chr18:45376334-45376335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557148658	chr18:45376345-45376346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138677729	chr18:45376355-45376356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141705679	chr18:45376356-45376357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553457933	chr18:45376371-45376372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573137030	chr18:45376388-45376389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541787496	chr18:45376392-45376393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34354831	chr18:45376417-45376418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114927456	chr18:45376423-45376424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79237189	chr18:45376448-45376449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150750490	chr18:45376485-45376486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564517330	chr18:45376502-45376503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533622146	chr18:45376514-45376515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545559375	chr18:45376520-45376521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559434361	chr18:45376527-45376528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549810077	chr18:45376566-45376567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558111861	chr18:45376567-45376568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544221140	chr18:45376582-45376583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528213961	chr18:45376595-45376596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560134971	chr18:45376610-45376611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34567227	chr18:45376611-45376612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200082191	chr18:45376617-45376618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548183342	chr18:45376646-45376647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544836307	chr18:45376678-45376679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71162895	chr18:45376681-45376682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs8089361	chr18:45376682-45376683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187242904	chr18:45376690-45376691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530787695	chr18:45376709-45376710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550897171	chr18:45376711-45376712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192016680	chr18:45376728-45376729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185205093	chr18:45376748-45376749	Weak transcription Strong transcription	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:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45342200-45384200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:45345400-45400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr18:45347600-45381800	Weak transcription	Right Ventricle	heart
4	chr18:45353000-45381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:45354600-45381800	Weak transcription	Fetal Intestine Small	intestine
6	chr18:45355600-45376200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr18:45356000-45378000	Weak transcription	Small Intestine	intestine
8	chr18:45356200-45377800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:45356200-45384000	Weak transcription	Spleen	Spleen
10	chr18:45356600-45376200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr18:45358600-45376400	Strong transcription	Dnd41	blood
12	chr18:45358800-45382400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:45361400-45376000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr18:45363800-45376400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr18:45364600-45376200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr18:45365800-45381800	Weak transcription	Psoas Muscle	Psoas
17	chr18:45366000-45381800	Weak transcription	Aorta	Aorta
18	chr18:45366200-45390000	Weak transcription	Colonic Mucosa	Colon
19	chr18:45366400-45384000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr18:45366400-45384000	Weak transcription	Brain Angular Gyrus	brain
21	chr18:45366400-45384000	Weak transcription	Esophagus	oesophagus
22	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr18:45368200-45384000	Weak transcription	Stomach Mucosa	stomach
24	chr18:45368400-45377200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr18:45369000-45381800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr18:45369200-45381200	Weak transcription	Brain Germinal Matrix	brain
27	chr18:45369600-45380000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr18:45369600-45381800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr18:45369600-45382000	Weak transcription	Fetal Brain Female	brain
30	chr18:45369800-45383600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:45369800-45384000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr18:45369800-45384000	Weak transcription	Fetal Stomach	stomach
33	chr18:45369800-45386400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr18:45371600-45380400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr18:45371600-45381200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr18:45371800-45377000	Weak transcription	Brain Anterior Caudate	brain
37	chr18:45371800-45381200	Weak transcription	Brain Substantia Nigra	brain
38	chr18:45371800-45382000	Weak transcription	Fetal Heart	heart
39	chr18:45371800-45382200	Weak transcription	Fetal Brain Male	brain
40	chr18:45372000-45381400	Weak transcription	Brain Hippocampus Middle	brain
41	chr18:45372000-45381800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr18:45372000-45384000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr18:45372200-45381200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr18:45372200-45381800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr18:45372200-45381800	Weak transcription	Colon Smooth Muscle	Colon
46	chr18:45372200-45381800	Weak transcription	Lung	lung
47	chr18:45372200-45381800	Weak transcription	HSMMtube	muscle
48	chr18:45372200-45382400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr18:45372200-45386200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr18:45372200-45396000	Weak transcription	NHLF	lung

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