Variant report

Variant	esv3377609
Chromosome Location	chr5:120338253-120342551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76029779	chr5:120338653-120338654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12719279	chr5:120338661-120338662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs528639673	chr5:120338685-120338686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140157120	chr5:120338690-120338691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113347021	chr5:120338721-120338722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558151716	chr5:120338760-120338761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151023339	chr5:120338776-120338777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182816364	chr5:120338777-120338778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186501073	chr5:120338778-120338779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369023673	chr5:120338787-120338788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112148239	chr5:120338793-120338794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34392776	chr5:120338919-120338920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35376424	chr5:120338953-120338954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191492438	chr5:120338970-120338971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149808708	chr5:120338975-120338976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559646793	chr5:120339007-120339008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182871994	chr5:120339019-120339020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187879529	chr5:120339036-120339037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1363531	chr5:120339067-120339068	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140355430	chr5:120339081-120339082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77113720	chr5:120339147-120339148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561808427	chr5:120339190-120339191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76285721	chr5:120339227-120339228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368268378	chr5:120339232-120339233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138140973	chr5:120339270-120339271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565998141	chr5:120339280-120339281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539703564	chr5:120339289-120339290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191266918	chr5:120339380-120339381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570112182	chr5:120339392-120339393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116656265	chr5:120339412-120339413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555613281	chr5:120339465-120339466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1363532	chr5:120339502-120339503	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs200996573	chr5:120339504-120339505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534926836	chr5:120339512-120339513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183543717	chr5:120339515-120339516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143184138	chr5:120339518-120339519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187888437	chr5:120339572-120339573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192289654	chr5:120339587-120339588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148204918	chr5:120339599-120339600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543386085	chr5:120339621-120339622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184591636	chr5:120339622-120339623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528949028	chr5:120339629-120339630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188261963	chr5:120339634-120339635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192919044	chr5:120339642-120339643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533158595	chr5:120339656-120339657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116428368	chr5:120339662-120339663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572958884	chr5:120339773-120339774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184575310	chr5:120339807-120339808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1833646	chr5:120339865-120339866	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs141142681	chr5:120339866-120339867	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120338600-120340600	Enhancers	Dnd41	blood
2	chr5:120340200-120341000	Enhancers	HUVEC	blood vessel
3	chr5:120340600-120343600	Weak transcription	Dnd41	blood

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