Variant report

Variant	esv3404894
Chromosome Location	chr5:116877153-116881751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 199 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571003837	chr5:116877161-116877162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541682900	chr5:116877172-116877173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139456806	chr5:116877178-116877179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575330765	chr5:116877191-116877192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79428111	chr5:116877198-116877199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187149419	chr5:116877236-116877237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532997425	chr5:116877260-116877261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553621356	chr5:116877261-116877262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540194716	chr5:116877270-116877271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560625121	chr5:116877271-116877272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370939886	chr5:116877284-116877285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373641425	chr5:116877286-116877287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377096168	chr5:116877294-116877295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374251449	chr5:116877298-116877299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111483784	chr5:116877307-116877308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190052093	chr5:116877308-116877309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549324731	chr5:116877309-116877310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569465759	chr5:116877316-116877317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs137914430	chr5:116877321-116877322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531766245	chr5:116877323-116877324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574992545	chr5:116877329-116877330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551504510	chr5:116877337-116877338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111722668	chr5:116877338-116877339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571368128	chr5:116877345-116877346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575879745	chr5:116877346-116877347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78729935	chr5:116877351-116877352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142795715	chr5:116877364-116877365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62378105	chr5:116877374-116877375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201881917	chr5:116877379-116877380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369425362	chr5:116877381-116877382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373876205	chr5:116877385-116877386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533937604	chr5:116877388-116877389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370207700	chr5:116877397-116877398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554110882	chr5:116877440-116877441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369486110	chr5:116877452-116877453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182640081	chr5:116877457-116877458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62644387	chr5:116877462-116877463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555351861	chr5:116877464-116877465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199731665	chr5:116877469-116877470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575442856	chr5:116877472-116877473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199590016	chr5:116877483-116877484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28784970	chr5:116877487-116877488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28891183	chr5:116877494-116877495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs183095528	chr5:116877495-116877496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200424646	chr5:116877515-116877516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201238445	chr5:116877517-116877518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28820682	chr5:116877520-116877521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199854070	chr5:116877523-116877524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143705381	chr5:116877527-116877528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560060101	chr5:116877529-116877530	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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