Variant report

Variant	esv3430750
Chromosome Location	chr18:25529535-25529829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530547721	chr18:25529574-25529575	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs17521887	chr18:25529599-25529600	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs191743422	chr18:25529600-25529601	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs534729805	chr18:25529607-25529608	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs45519438	chr18:25529608-25529609	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567604154	chr18:25529675-25529676	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534913555	chr18:25529696-25529697	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17445496	chr18:25529697-25529698	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs571376854	chr18:25529705-25529706	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373454818	chr18:25529724-25529725	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4800835	chr18:25529731-25529732	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539307909	chr18:25529735-25529736	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368975082	chr18:25529742-25529743	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563994373	chr18:25529747-25529748	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550674261	chr18:25529790-25529791	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25512200-25540000	Weak transcription	Aorta	Aorta
2	chr18:25516400-25530400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr18:25521400-25535800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:25522800-25536800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:25523000-25533400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr18:25523000-25540200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr18:25523200-25530400	Weak transcription	Left Ventricle	heart
8	chr18:25523400-25530400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:25523400-25531600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr18:25528400-25532000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:25528400-25532200	Strong transcription	NH-A	brain
12	chr18:25528400-25539600	Weak transcription	Brain Germinal Matrix	brain
13	chr18:25528600-25530200	Weak transcription	Liver	Liver
14	chr18:25528600-25530400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr18:25528600-25534600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:25528600-25542800	Weak transcription	Fetal Heart	heart
17	chr18:25528600-25547600	Weak transcription	HepG2	liver
18	chr18:25528800-25529600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:25528800-25530400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr18:25528800-25530400	Weak transcription	HUVEC	blood vessel
21	chr18:25528800-25533000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:25528800-25543200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr18:25529200-25529600	Enhancers	Brain Angular Gyrus	brain
24	chr18:25529200-25540200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr18:25529200-25540200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr18:25529200-25543200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr18:25529400-25529600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:25529400-25530200	Weak transcription	HSMM	muscle
29	chr18:25529400-25530400	Weak transcription	Osteobl	bone
30	chr18:25529400-25533800	Weak transcription	HSMMtube	muscle
31	chr18:25529600-25529800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:25529600-25530000	Weak transcription	Brain Angular Gyrus	brain
33	chr18:25529600-25530200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:25529800-25530800	Weak transcription	Dnd41	blood
35	chr18:25529800-25532400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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