Variant report

Variant	esv3431722
Chromosome Location	chr5:178239775-178240263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178238402..178240858-chr5:178245759..178247482,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371874936	chr5:178239802-178239803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117848308	chr5:178239817-178239818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76349351	chr5:178239822-178239823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114240999	chr5:178239835-178239836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564928134	chr5:178239838-178239839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532402937	chr5:178239860-178239861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550636633	chr5:178239877-178239878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548143160	chr5:178239991-178239992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562662127	chr5:178240039-178240040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373963347	chr5:178240081-178240082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151170693	chr5:178240095-178240096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566604529	chr5:178240134-178240135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117146287	chr5:178240140-178240141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111933658	chr5:178240155-178240156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115109416	chr5:178240168-178240169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537869713	chr5:178240171-178240172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556267331	chr5:178240179-178240180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571138140	chr5:178240197-178240198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140054140	chr5:178240204-178240205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4701097	chr5:178240212-178240213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555141927	chr5:178240217-178240218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371840188	chr5:178240220-178240221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557471895	chr5:178240237-178240238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191813572	chr5:178240238-178240239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150301951	chr5:178240247-178240248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565262235	chr5:178240253-178240254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576795944	chr5:178240262-178240263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178236800-178255800	Weak transcription	K562	blood

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