Variant report

Variant	esv3406091
Chromosome Location	chr5:120003753-120007051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141983351	chr5:120003763-120003764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376935193	chr5:120003770-120003771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186435581	chr5:120003778-120003779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369042334	chr5:120003809-120003810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573610021	chr5:120003825-120003826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534410705	chr5:120003830-120003831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190885137	chr5:120003842-120003843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577394980	chr5:120003858-120003859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200974655	chr5:120003859-120003860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563401272	chr5:120003901-120003902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575503002	chr5:120003963-120003964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372389397	chr5:120003984-120003985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542605991	chr5:120004069-120004070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561330687	chr5:120004084-120004085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528533302	chr5:120004098-120004099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111471742	chr5:120004112-120004113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547097537	chr5:120004123-120004124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565408344	chr5:120004181-120004182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532727221	chr5:120004201-120004202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551171814	chr5:120004213-120004214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569411825	chr5:120004224-120004225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550428692	chr5:120004245-120004246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530426355	chr5:120004278-120004279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548649260	chr5:120004279-120004280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145849824	chr5:120004289-120004290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566914916	chr5:120004380-120004381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145530043	chr5:120004419-120004420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539075833	chr5:120004437-120004438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557756911	chr5:120004439-120004440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571163858	chr5:120004458-120004459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571024831	chr5:120004514-120004515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182930149	chr5:120004545-120004546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149188768	chr5:120004556-120004557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111290380	chr5:120004616-120004617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148351601	chr5:120004652-120004653	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575133301	chr5:120004655-120004656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141552326	chr5:120004674-120004675	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542394158	chr5:120004686-120004687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187483157	chr5:120004764-120004765	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145902737	chr5:120004814-120004815	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138187666	chr5:120004868-120004869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575666847	chr5:120004872-120004873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192545724	chr5:120004883-120004884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183218011	chr5:120004914-120004915	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563095791	chr5:120004915-120004916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530270964	chr5:120004938-120004939	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548848723	chr5:120004973-120004974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563638988	chr5:120005020-120005021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528043618	chr5:120005026-120005027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550489573	chr5:120005031-120005032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119953000-120021800	Weak transcription	HSMMtube	muscle
2	chr5:119967800-120012800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:119978600-120004600	Weak transcription	HSMM	muscle
4	chr5:119985400-120004600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:119985400-120011200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:119991000-120013800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:119993200-120011400	Weak transcription	Osteobl	bone
8	chr5:120004600-120005000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:120004600-120005000	ZNF genes & repeats	HSMM	muscle
10	chr5:120005000-120007800	Weak transcription	HSMM	muscle
11	chr5:120005000-120013000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:120005600-120010800	Weak transcription	NHDF-Ad	bronchial
13	chr5:120006200-120012800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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