Variant report

Variant	esv3362818
Chromosome Location	chr18:39655999-39656161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7504589	chr18:39656014-39656015	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142443456	chr18:39656052-39656053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142072211	chr18:39656071-39656072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71174077	chr18:39656082-39656083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12956153	chr18:39656088-39656089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551484737	chr18:39656106-39656107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372275041	chr18:39656108-39656109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78655439	chr18:39656109-39656110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28678793	chr18:39656110-39656111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369169154	chr18:39656111-39656112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368133170	chr18:39656112-39656113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62082881	chr18:39656113-39656114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57310358	chr18:39656121-39656122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35001905	chr18:39656124-39656125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58502825	chr18:39656128-39656129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375558824	chr18:39656129-39656130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543823602	chr18:39656131-39656132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58514972	chr18:39656141-39656142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550616351	chr18:39656144-39656145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562004757	chr18:39656145-39656146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71370025	chr18:39656155-39656156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200352776	chr18:39656157-39656158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201249454	chr18:39656159-39656160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71174078	chr18:39656161-39656162	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:122 , 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	chr18:39578400-39663200	Weak transcription	Fetal Heart	heart
3	chr18:39581000-39666200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:39585000-39658600	Weak transcription	Small Intestine	intestine
5	chr18:39590600-39668000	Weak transcription	Esophagus	oesophagus
6	chr18:39601600-39668200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr18:39612200-39666400	Weak transcription	Gastric	stomach
8	chr18:39612200-39669800	Weak transcription	Fetal Stomach	stomach
9	chr18:39612200-39670000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:39615400-39663400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr18:39619200-39656400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr18:39619800-39662200	Weak transcription	Right Ventricle	heart
13	chr18:39620800-39664200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr18:39621200-39657200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr18:39628600-39666200	Weak transcription	A549	lung
16	chr18:39630600-39658600	Weak transcription	Hela-S3	cervix
17	chr18:39631200-39659800	Weak transcription	Fetal Brain Male	brain
18	chr18:39634800-39674600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr18:39639400-39664000	Weak transcription	K562	blood
20	chr18:39644200-39674800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:39644400-39656800	Weak transcription	HUVEC	blood vessel
22	chr18:39644600-39665000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr18:39644800-39660200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:39644800-39662800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr18:39644800-39664200	Strong transcription	Liver	Liver
26	chr18:39644800-39665000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr18:39645000-39664000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:39648000-39657400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr18:39648000-39661200	Weak transcription	HMEC	breast
30	chr18:39648200-39656400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr18:39648200-39657000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr18:39648200-39657200	Weak transcription	Lung	lung
33	chr18:39648200-39657200	Weak transcription	Osteobl	bone
34	chr18:39648200-39657600	Weak transcription	Brain Anterior Caudate	brain
35	chr18:39648200-39657800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr18:39648200-39662200	Weak transcription	Psoas Muscle	Psoas
37	chr18:39648200-39665400	Weak transcription	Spleen	Spleen
38	chr18:39648200-39666400	Weak transcription	Thymus	Thymus
39	chr18:39648200-39668200	Weak transcription	Brain Angular Gyrus	brain
40	chr18:39648400-39656400	Weak transcription	Fetal Brain Female	brain
41	chr18:39648400-39657000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr18:39648400-39657000	Weak transcription	Brain Germinal Matrix	brain
43	chr18:39648400-39657800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr18:39648400-39662200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr18:39648600-39658200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:39648800-39657200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr18:39649200-39665600	Weak transcription	HepG2	liver
48	chr18:39649200-39674600	Weak transcription	Fetal Intestine Small	intestine
49	chr18:39649600-39664400	Strong transcription	HSMM	muscle
50	chr18:39650000-39656400	Weak transcription	Fetal Muscle Leg	muscle

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