Variant report

Variant	esv3518463
Chromosome Location	chr5:120329703-120331701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115622628	chr5:120329708-120329709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543811515	chr5:120329717-120329718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146306560	chr5:120329785-120329786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545001643	chr5:120329790-120329791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139152225	chr5:120329803-120329804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188031112	chr5:120329815-120329816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549178934	chr5:120329848-120329849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561105396	chr5:120329854-120329855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528382122	chr5:120329905-120329906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182123753	chr5:120329916-120329917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374888983	chr5:120329926-120329927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185519240	chr5:120329934-120329935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571525295	chr5:120329959-120329960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78748243	chr5:120329991-120329992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7701867	chr5:120329993-120329994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73260795	chr5:120330015-120330016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143061149	chr5:120330088-120330089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536381634	chr5:120330092-120330093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113891722	chr5:120330115-120330116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79677931	chr5:120330146-120330147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371337436	chr5:120330180-120330181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190141666	chr5:120330186-120330187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558945184	chr5:120330203-120330204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577484540	chr5:120330224-120330225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75329131	chr5:120330239-120330240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6595280	chr5:120330279-120330280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575398080	chr5:120330295-120330296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10072543	chr5:120330313-120330314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10072447	chr5:120330314-120330315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528231651	chr5:120330340-120330341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190195031	chr5:120330369-120330370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565004764	chr5:120330428-120330429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1422597	chr5:120330430-120330431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs386508461	chr5:120330448-120330449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569613732	chr5:120330465-120330466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs253701	chr5:120330566-120330567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550544890	chr5:120330580-120330581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375423749	chr5:120330628-120330629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2973165	chr5:120330634-120330635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs1422598	chr5:120330657-120330658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548231215	chr5:120330669-120330670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566967144	chr5:120330671-120330672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534100780	chr5:120330701-120330702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149263103	chr5:120330718-120330719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559130802	chr5:120330719-120330720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571037960	chr5:120330720-120330721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534582665	chr5:120330767-120330768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538575616	chr5:120330787-120330788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376650527	chr5:120330831-120330832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540624989	chr5:120330850-120330851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120328200-120334000	Weak transcription	Dnd41	blood

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