Variant report

Variant	esv3445019
Chromosome Location	chr18:30387495-30387982
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	chr18:30381913..30383468-chr18:30387228..30389865,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 71 )

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	rs576053637	chr18:30387509-30387510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547786874	chr18:30387511-30387512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536651302	chr18:30387518-30387519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542257085	chr18:30387541-30387542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113212318	chr18:30387542-30387543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567057721	chr18:30387614-30387615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148696558	chr18:30387618-30387619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374445466	chr18:30387626-30387627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183460874	chr18:30387632-30387633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542157399	chr18:30387675-30387676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187392334	chr18:30387686-30387687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142201250	chr18:30387691-30387692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527991985	chr18:30387734-30387735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546352965	chr18:30387768-30387769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564441494	chr18:30387771-30387772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9966457	chr18:30387772-30387773	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564354612	chr18:30387795-30387796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192085486	chr18:30387802-30387803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184722997	chr18:30387841-30387842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189815644	chr18:30387843-30387844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11081782	chr18:30387844-30387845	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192731237	chr18:30387849-30387850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150624757	chr18:30387852-30387853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569654930	chr18:30387906-30387907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73955286	chr18:30387925-30387926	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30384400-30389000	Enhancers	HepG2	liver
2	chr18:30385000-30387800	Weak transcription	Fetal Kidney	kidney
3	chr18:30387800-30388600	Enhancers	Fetal Kidney	kidney

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