Variant report

Variant	esv3416715
Chromosome Location	chr5:116876553-116879426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 226 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75738042	chr5:116876570-116876571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113373328	chr5:116876571-116876572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386404793	chr5:116876572-116876573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372128272	chr5:116876573-116876574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386404794	chr5:116876574-116876575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187232557	chr5:116876609-116876610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190071538	chr5:116876610-116876611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530602654	chr5:116876623-116876624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369637463	chr5:116876691-116876692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142538396	chr5:116876695-116876696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540548293	chr5:116876710-116876711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564105228	chr5:116876767-116876768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569592658	chr5:116876786-116876787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62378104	chr5:116876798-116876799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553902203	chr5:116876873-116876874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547366063	chr5:116876899-116876900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567143454	chr5:116876922-116876923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs448947	chr5:116876935-116876936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569273594	chr5:116876961-116876962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568892935	chr5:116876981-116876982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537911723	chr5:116877006-116877007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150521595	chr5:116877022-116877023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367761	chr5:116877033-116877034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs74509335	chr5:116877072-116877073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113168367	chr5:116877143-116877144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181721796	chr5:116877148-116877149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573048552	chr5:116877152-116877153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571003837	chr5:116877161-116877162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541682900	chr5:116877172-116877173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139456806	chr5:116877178-116877179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575330765	chr5:116877191-116877192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79428111	chr5:116877198-116877199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187149419	chr5:116877236-116877237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532997425	chr5:116877260-116877261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553621356	chr5:116877261-116877262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540194716	chr5:116877270-116877271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560625121	chr5:116877271-116877272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370939886	chr5:116877284-116877285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373641425	chr5:116877286-116877287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377096168	chr5:116877294-116877295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374251449	chr5:116877298-116877299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111483784	chr5:116877307-116877308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190052093	chr5:116877308-116877309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549324731	chr5:116877309-116877310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569465759	chr5:116877316-116877317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs137914430	chr5:116877321-116877322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531766245	chr5:116877323-116877324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574992545	chr5:116877329-116877330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551504510	chr5:116877337-116877338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111722668	chr5:116877338-116877339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116875800-116878600	Weak transcription	Fetal Kidney	kidney

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