Variant report

Variant	esv3350846
Chromosome Location	chr18:25556493-25557139
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543562907	chr18:25556520-25556521	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562289401	chr18:25556531-25556532	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1220156	chr18:25556552-25556553	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188487732	chr18:25556638-25556639	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191025177	chr18:25556645-25556646	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75453110	chr18:25556701-25556702	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183542150	chr18:25556733-25556734	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186637132	chr18:25556737-25556738	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538088044	chr18:25556749-25556750	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556387266	chr18:25556757-25556758	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10469052	chr18:25556840-25556841	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573727917	chr18:25556867-25556868	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191445504	chr18:25556909-25556910	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149096320	chr18:25556931-25556932	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143128354	chr18:25556935-25556936	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148233644	chr18:25556963-25556964	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17493332	chr18:25556984-25556985	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559808282	chr18:25556991-25556992	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141647055	chr18:25557033-25557034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543648418	chr18:25557068-25557069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76994288	chr18:25557129-25557130	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs67900922	chr18:25557130-25557131	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35035715	chr18:25557131-25557132	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142038961	chr18:25557132-25557133	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201130827	chr18:25557133-25557134	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25531200-25593600	Weak transcription	Fetal Kidney	kidney
2	chr18:25536400-25578200	Weak transcription	Fetal Brain Male	brain
3	chr18:25536800-25574200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr18:25540200-25564600	Weak transcription	Ovary	ovary
5	chr18:25540800-25564400	Weak transcription	Brain Hippocampus Middle	brain
6	chr18:25540800-25576400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:25542800-25574400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr18:25544400-25572400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:25545400-25564800	Weak transcription	HUVEC	blood vessel
10	chr18:25545600-25588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr18:25548600-25557600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr18:25548800-25574600	Strong transcription	NH-A	brain
13	chr18:25549400-25574000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr18:25549600-25556800	Strong transcription	Liver	Liver
15	chr18:25549600-25557600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:25549600-25572000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:25550800-25564400	Weak transcription	A549	lung
18	chr18:25552400-25556800	Strong transcription	HSMM	muscle
19	chr18:25552400-25557000	Strong transcription	Dnd41	blood
20	chr18:25553000-25566200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr18:25553000-25593600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr18:25553600-25560200	Weak transcription	Right Atrium	heart
23	chr18:25554200-25557600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr18:25554400-25571000	Strong transcription	Osteobl	bone
25	chr18:25554600-25556600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr18:25554600-25557400	Strong transcription	Brain Germinal Matrix	brain
27	chr18:25554800-25556800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr18:25555000-25557000	Strong transcription	Fetal Brain Female	brain
29	chr18:25555000-25571600	Weak transcription	HSMMtube	muscle
30	chr18:25555400-25556600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr18:25555400-25556600	Strong transcription	Brain Cingulate Gyrus	brain
32	chr18:25555400-25558400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr18:25555400-25565400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr18:25555600-25559200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr18:25555600-25574200	Weak transcription	Brain Anterior Caudate	brain
36	chr18:25555800-25556600	Strong transcription	HepG2	liver
37	chr18:25555800-25562000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr18:25556000-25556800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr18:25556000-25557000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:25556000-25563200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr18:25556200-25558200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr18:25556200-25558200	Weak transcription	Left Ventricle	heart
43	chr18:25556200-25558400	Weak transcription	Right Ventricle	heart
44	chr18:25556200-25574600	Weak transcription	Brain Angular Gyrus	brain
45	chr18:25556200-25586800	Weak transcription	Spleen	Spleen
46	chr18:25556200-25592800	Weak transcription	Aorta	Aorta
47	chr18:25556200-25595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr18:25556400-25556600	Enhancers	Fetal Intestine Small	intestine
49	chr18:25556400-25557000	Genic enhancers	Fetal Heart	heart
50	chr18:25556400-25558000	Enhancers	Fetal Intestine Large	intestine

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