Variant report

Variant	nsv521603
Chromosome Location	chr18:25299829-25309414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 324 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9954254	chr18:25299829-25299830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79742782	chr18:25299843-25299844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567579211	chr18:25299862-25299863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534785878	chr18:25299914-25299915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368138516	chr18:25299988-25299989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116180403	chr18:25300034-25300035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115127108	chr18:25300166-25300167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538795028	chr18:25300175-25300176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371891799	chr18:25300177-25300178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368446066	chr18:25300216-25300217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553452844	chr18:25300240-25300241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561386161	chr18:25300260-25300261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2617940	chr18:25300275-25300276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs33943850	chr18:25300278-25300279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575195905	chr18:25300286-25300287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185964162	chr18:25300290-25300291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189731821	chr18:25300303-25300304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143565774	chr18:25300322-25300323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148033541	chr18:25300349-25300350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565381866	chr18:25300388-25300389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533045653	chr18:25300390-25300391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545074094	chr18:25300420-25300421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200960167	chr18:25300432-25300433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563380369	chr18:25300449-25300450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141704257	chr18:25300471-25300472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181331103	chr18:25300474-25300475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377378446	chr18:25300486-25300487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578064685	chr18:25300524-25300525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561213024	chr18:25300532-25300533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545829768	chr18:25300543-25300544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546145514	chr18:25300546-25300547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546762821	chr18:25300581-25300582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72890875	chr18:25300598-25300599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538457347	chr18:25300622-25300623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550628354	chr18:25300696-25300697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569031317	chr18:25300701-25300702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531546367	chr18:25300706-25300707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536224857	chr18:25300747-25300748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543208924	chr18:25300768-25300769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186698195	chr18:25300769-25300770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534271661	chr18:25300782-25300783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7230568	chr18:25300818-25300819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577323391	chr18:25300819-25300820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544834103	chr18:25300820-25300821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563341701	chr18:25300822-25300823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575437442	chr18:25300825-25300826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35171421	chr18:25300827-25300828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542628868	chr18:25300875-25300876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145882701	chr18:25300940-25300941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368260382	chr18:25300944-25300945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Acute myeloid leukemia	19651600	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25296800-25300000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr18:25296800-25300000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr18:25297800-25300000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr18:25299000-25303000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr18:25299000-25303600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr18:25299200-25303200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr18:25299200-25303400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr18:25299200-25303600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr18:25299400-25300000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr18:25299600-25303400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:25300000-25303000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr18:25300000-25303200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:25300000-25303400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr18:25302800-25303800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr18:25302800-25304000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr18:25303000-25303400	Enhancers	Osteobl	bone
17	chr18:25303000-25304600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr18:25303000-25304600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr18:25303000-25304600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:25303200-25303400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr18:25303200-25303800	Enhancers	NH-A	brain
22	chr18:25303200-25304600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr18:25303400-25303800	Flanking Active TSS	Osteobl	bone
24	chr18:25303400-25304200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr18:25303400-25304400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr18:25303400-25304600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr18:25303400-25304600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr18:25303400-25304600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:25303600-25303800	Enhancers	HSMM	muscle
30	chr18:25303600-25304000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr18:25303600-25304000	Enhancers	Brain Angular Gyrus	brain
32	chr18:25303600-25304600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr18:25303600-25304600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:25303600-25304600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr18:25303800-25304200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:25303800-25304400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr18:25303800-25304600	Enhancers	Osteobl	bone
38	chr18:25304200-25304400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr18:25304200-25304600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr18:25304400-25304600	Enhancers	HSMM	muscle
41	chr18:25304600-25307800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr18:25307800-25308400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr18:25307800-25308600	ZNF genes & repeats	Aorta	Aorta

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