Variant report

Variant	nsv518698
Chromosome Location	chr18:24779601-24793163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 459 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12232768	chr18:24779601-24779602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561725440	chr18:24779604-24779605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372450737	chr18:24779631-24779632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377046829	chr18:24779651-24779652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11083205	chr18:24779723-24779724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs112937649	chr18:24779726-24779727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547339170	chr18:24779734-24779735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549973050	chr18:24779739-24779740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56975806	chr18:24779757-24779758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565552851	chr18:24779767-24779768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148669926	chr18:24779771-24779772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2256483	chr18:24779773-24779774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11083206	chr18:24779775-24779776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185358962	chr18:24779777-24779778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568882797	chr18:24779810-24779811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116782739	chr18:24779841-24779842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570430533	chr18:24779866-24779867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537960080	chr18:24779882-24779883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555966081	chr18:24779896-24779897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574624744	chr18:24779910-24779911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142148008	chr18:24779914-24779915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553511834	chr18:24779916-24779917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572012952	chr18:24779957-24779958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545666199	chr18:24780002-24780003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564155693	chr18:24780007-24780008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576014303	chr18:24780017-24780018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569908033	chr18:24780033-24780034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369027202	chr18:24780133-24780134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531385451	chr18:24780196-24780197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544420147	chr18:24780197-24780198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543922867	chr18:24780241-24780242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372949047	chr18:24780255-24780256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34956785	chr18:24780256-24780257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375321918	chr18:24780268-24780269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190068795	chr18:24780288-24780289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541274465	chr18:24780340-24780341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559938265	chr18:24780408-24780409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533687430	chr18:24780412-24780413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552066313	chr18:24780422-24780423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537210580	chr18:24780483-24780484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570493677	chr18:24780495-24780496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140263433	chr18:24780507-24780508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114388502	chr18:24780589-24780590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568073279	chr18:24780592-24780593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117435350	chr18:24780619-24780620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183276765	chr18:24780719-24780720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542507658	chr18:24780740-24780741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565504492	chr18:24780803-24780804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76392646	chr18:24780827-24780828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79182869	chr18:24780829-24780830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
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
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
Sudden cardiac death	19188705	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

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24773800-24782800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:24776800-24786400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr18:24778200-24781600	Weak transcription	Fetal Stomach	stomach
4	chr18:24779200-24785600	Weak transcription	Fetal Intestine Large	intestine
5	chr18:24779200-24785600	Weak transcription	Fetal Intestine Small	intestine
6	chr18:24779600-24782600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr18:24781600-24781800	Enhancers	Fetal Stomach	stomach
8	chr18:24781800-24782200	Weak transcription	Fetal Stomach	stomach
9	chr18:24782200-24782600	Enhancers	Fetal Stomach	stomach
10	chr18:24782600-24783200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr18:24782600-24783200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr18:24782600-24783200	Enhancers	NHEK	skin
13	chr18:24782600-24783400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:24782600-24783400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:24782600-24783400	Enhancers	HMEC	breast
16	chr18:24782600-24783600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr18:24782800-24783200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:24782800-24783200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:24785600-24786600	Enhancers	Fetal Intestine Small	intestine
20	chr18:24785600-24787000	Enhancers	Fetal Intestine Large	intestine
21	chr18:24786200-24786400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr18:24786200-24786600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr18:24786200-24786600	Enhancers	Pancreas	Pancrea
24	chr18:24786400-24786600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr18:24786400-24789000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr18:24786600-24787200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr18:24787200-24788000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr18:24787600-24788800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr18:24788000-24793000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr18:24788800-24789800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr18:24791400-24793000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr18:24791800-24793200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr18:24792000-24792200	Enhancers	HMEC	breast
34	chr18:24792200-24794000	Weak transcription	HMEC	breast
35	chr18:24793000-24793200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr18:24793000-24793400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr18:24793000-24793400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr18:24793000-24793800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr18:24793000-24793800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr18:24793000-24794000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr18:24793000-24794200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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