Variant report

Variant	esv3431098
Chromosome Location	chr5:124467494-124468001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112437429	chr5:124467504-124467505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183368419	chr5:124467508-124467509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199664919	chr5:124467525-124467526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548427204	chr5:124467529-124467530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566971164	chr5:124467531-124467532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200737699	chr5:124467534-124467535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201535728	chr5:124467536-124467537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199551519	chr5:124467539-124467540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542753211	chr5:124467558-124467559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534007711	chr5:124467568-124467569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376845081	chr5:124467583-124467584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199809861	chr5:124467614-124467615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556660304	chr5:124467647-124467648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576783627	chr5:124467656-124467657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4413528	chr5:124467672-124467673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143704715	chr5:124467676-124467677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4421099	chr5:124467678-124467679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542427003	chr5:124467689-124467690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9327351	chr5:124467691-124467692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10061391	chr5:124467695-124467696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192586944	chr5:124467718-124467719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71591262	chr5:124467721-124467722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34757919	chr5:124467730-124467731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs35170832	chr5:124467732-124467733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs34284808	chr5:124467735-124467736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10061454	chr5:124467803-124467804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs201117548	chr5:124467810-124467811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184571322	chr5:124467823-124467824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531176940	chr5:124467826-124467827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188190815	chr5:124467844-124467845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571301329	chr5:124467852-124467853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113736913	chr5:124467876-124467877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112207423	chr5:124467879-124467880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111701433	chr5:124467887-124467888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55676455	chr5:124467900-124467901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534035024	chr5:124467926-124467927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552241326	chr5:124467935-124467936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191098766	chr5:124467963-124467964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374676199	chr5:124467977-124467978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537823996	chr5:124467985-124467986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76551268	chr5:124467994-124467995	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	chr5:124456200-124470000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:124456200-124470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:124461400-124468200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:124465400-124470000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:124465400-124471000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:124465600-124468600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:124465600-124470000	Weak transcription	HUVEC	blood vessel
8	chr5:124465600-124470000	Weak transcription	NHDF-Ad	bronchial
9	chr5:124466200-124468600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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