Variant report

Variant	esv3421778
Chromosome Location	chr5:124754803-124757101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371356805	chr5:124754815-124754816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565673830	chr5:124754824-124754825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527877297	chr5:124754842-124754843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552541853	chr5:124754855-124754856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565729778	chr5:124754857-124754858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534733954	chr5:124754870-124754871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554823667	chr5:124754900-124754901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376987571	chr5:124754906-124754907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386404908	chr5:124754930-124754931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10686926	chr5:124754932-124754933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2637499	chr5:124754953-124754954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115451900	chr5:124754961-124754962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537761949	chr5:124754964-124754965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556103292	chr5:124754977-124754978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6866486	chr5:124755039-124755040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6887469	chr5:124755049-124755050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185397086	chr5:124755120-124755121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6866635	chr5:124755121-124755122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189927713	chr5:124755129-124755130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539614842	chr5:124755191-124755192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6866932	chr5:124755279-124755280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576373276	chr5:124755310-124755311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6866980	chr5:124755350-124755351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs78280789	chr5:124755479-124755480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201388062	chr5:124755480-124755481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199605121	chr5:124755481-124755482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2637500	chr5:124755492-124755493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573664532	chr5:124755501-124755502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73303312	chr5:124755527-124755528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35282468	chr5:124755573-124755574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200148843	chr5:124755686-124755687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559395905	chr5:124755700-124755701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138721812	chr5:124755710-124755711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189139576	chr5:124755723-124755724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141628147	chr5:124755731-124755732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200540969	chr5:124755740-124755741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201609549	chr5:124755759-124755760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6867414	chr5:124755772-124755773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7728108	chr5:124755776-124755777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9686688	chr5:124755781-124755782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs70994805	chr5:124755842-124755843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2408334	chr5:124755843-124755844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1812512	chr5:124755845-124755846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2932938	chr5:124755847-124755848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367875662	chr5:124755848-124755849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10688872	chr5:124755864-124755865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57795951	chr5:124755873-124755874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568446785	chr5:124755894-124755895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367754929	chr5:124755904-124755905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563336456	chr5:124755913-124755914	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124750000-124756800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:124750400-124759800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:124750400-124760400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:124750600-124756800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:124751000-124756200	Weak transcription	Fetal Brain Female	brain
6	chr5:124751200-124756600	Weak transcription	Brain Germinal Matrix	brain
7	chr5:124751200-124758000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:124751200-124760200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:124751600-124756000	Weak transcription	Fetal Brain Male	brain
10	chr5:124751600-124756800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:124751800-124760400	Weak transcription	Fetal Kidney	kidney
12	chr5:124753000-124756600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:124753000-124756600	Weak transcription	Brain Substantia Nigra	brain
14	chr5:124753000-124760000	Weak transcription	Brain Angular Gyrus	brain
15	chr5:124753600-124760000	Weak transcription	Brain Anterior Caudate	brain
16	chr5:124753800-124756600	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:124756000-124758400	Enhancers	Fetal Brain Male	brain
18	chr5:124756200-124757200	Enhancers	Fetal Brain Female	brain
19	chr5:124756600-124757000	Active TSS	Brain Substantia Nigra	brain
20	chr5:124756600-124757400	Enhancers	Brain Cingulate Gyrus	brain
21	chr5:124756600-124757800	Enhancers	Brain Hippocampus Middle	brain
22	chr5:124756600-124758200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:124756600-124758200	Enhancers	Brain Germinal Matrix	brain
24	chr5:124756600-124760400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:124756800-124757400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:124756800-124757800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:124756800-124758400	Enhancers	Cortex derived primary cultured neurospheres	brain

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