Variant report

Variant	esv3339088
Chromosome Location	chr5:124233753-124235801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184340718	chr5:124233781-124233782	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6864634	chr5:124233789-124233790	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs75187406	chr5:124233833-124233834	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149726901	chr5:124233855-124233856	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188780518	chr5:124233867-124233868	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566126108	chr5:124233946-124233947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199554075	chr5:124234034-124234035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549310154	chr5:124234039-124234040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567619223	chr5:124234057-124234058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34921712	chr5:124234067-124234068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181920586	chr5:124234070-124234071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538080229	chr5:124234071-124234072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113820104	chr5:124234082-124234083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549948093	chr5:124234116-124234117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571271905	chr5:124234143-124234144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538700211	chr5:124234168-124234169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371646737	chr5:124234170-124234171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186385103	chr5:124234179-124234180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571966469	chr5:124234244-124234245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536244412	chr5:124234447-124234448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377568572	chr5:124234491-124234492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370472480	chr5:124234492-124234493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567332666	chr5:124234512-124234513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554949082	chr5:124234547-124234548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576381610	chr5:124234566-124234567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534606850	chr5:124234574-124234575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543674486	chr5:124234578-124234579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565037092	chr5:124234580-124234581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546668644	chr5:124234588-124234589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578048527	chr5:124234610-124234611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376241121	chr5:124234621-124234622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545434685	chr5:124234642-124234643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560292872	chr5:124234644-124234645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527735505	chr5:124234651-124234652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548946351	chr5:124234660-124234661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571213848	chr5:124234670-124234671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs70991646	chr5:124234673-124234674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561282842	chr5:124234674-124234675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531852255	chr5:124234676-124234677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376129911	chr5:124234683-124234684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571766588	chr5:124234691-124234692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538365851	chr5:124234694-124234695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538592833	chr5:124234704-124234705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190831600	chr5:124234713-124234714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575372534	chr5:124234714-124234715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369118306	chr5:124234721-124234722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565635342	chr5:124234736-124234737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536280560	chr5:124234757-124234758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181058211	chr5:124234779-124234780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112266005	chr5:124234789-124234790	Weak transcription	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124223200-124242200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:124225800-124237800	Weak transcription	Fetal Lung	lung
3	chr5:124233000-124233800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:124233400-124234000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr5:124233400-124237600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:124233800-124234200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:124233800-124238000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:124234000-124236000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:124235200-124242000	Weak transcription	NHDF-Ad	bronchial

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