Variant report

Variant	esv3379058
Chromosome Location	chr5:113576703-113578601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538450602	chr5:113576743-113576744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547708329	chr5:113576786-113576787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13180526	chr5:113576795-113576796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34087644	chr5:113576843-113576844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536093832	chr5:113576869-113576870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72797691	chr5:113576875-113576876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572039576	chr5:113576880-113576881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537179063	chr5:113576891-113576892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558120692	chr5:113576941-113576942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558367499	chr5:113576954-113576955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190987329	chr5:113576963-113576964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4705643	chr5:113577004-113577005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139395236	chr5:113577073-113577074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572801314	chr5:113577075-113577076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543306487	chr5:113577141-113577142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4705644	chr5:113577164-113577165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs72797693	chr5:113577177-113577178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs543940974	chr5:113577218-113577219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116723819	chr5:113577300-113577301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377676623	chr5:113577331-113577332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532596395	chr5:113577333-113577334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55702110	chr5:113577387-113577388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558670371	chr5:113577401-113577402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10624495	chr5:113577402-113577403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35388211	chr5:113577403-113577404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112650680	chr5:113577404-113577405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs386404734	chr5:113577412-113577413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35495894	chr5:113577414-113577415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4273595	chr5:113577416-113577417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565510269	chr5:113577425-113577426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184077808	chr5:113577427-113577428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544800071	chr5:113577429-113577430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4705645	chr5:113577430-113577431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4705646	chr5:113577432-113577433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563123902	chr5:113577435-113577436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376655181	chr5:113577444-113577445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4705647	chr5:113577449-113577450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4274971	chr5:113577450-113577451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12153736	chr5:113577451-113577452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12153476	chr5:113577452-113577453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12153186	chr5:113577460-113577461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4705648	chr5:113577461-113577462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372157628	chr5:113577469-113577470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376839828	chr5:113577471-113577472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12153187	chr5:113577472-113577473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377639964	chr5:113577474-113577475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371585190	chr5:113577475-113577476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368979660	chr5:113577480-113577481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373052579	chr5:113577481-113577482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369867913	chr5:113577484-113577485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113574800-113579000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:113575000-113577600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:113575200-113579400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:113577000-113579400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:113577600-113578000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:113578000-113579000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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