Variant report

Variant	esv1809866
Chromosome Location	chr5:57955303-57959412
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	chr5:57931843..57934379-chr5:57955747..57957509,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183174358	chr5:57957206-57957207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552104282	chr5:57957267-57957268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143456487	chr5:57957458-57957459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1363334	chr5:57957494-57957495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553251574	chr5:57957524-57957525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1862250	chr5:57957559-57957560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574524750	chr5:57957600-57957601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs716536	chr5:57957674-57957675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557081549	chr5:57957677-57957678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17280636	chr5:57957687-57957688	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188160709	chr5:57957746-57957747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564031634	chr5:57957765-57957766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572812504	chr5:57957946-57957947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144086089	chr5:57958022-57958023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116157377	chr5:57958107-57958108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530219573	chr5:57958142-57958143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375797731	chr5:57958175-57958176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192690381	chr5:57958268-57958269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563440880	chr5:57958380-57958381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147338812	chr5:57958387-57958388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139222036	chr5:57958428-57958429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35215980	chr5:57958439-57958440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141541848	chr5:57958608-57958609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150842543	chr5:57958698-57958699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546562864	chr5:57958699-57958700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568382346	chr5:57958774-57958775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530734096	chr5:57958777-57958778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535641696	chr5:57958785-57958786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557146925	chr5:57958827-57958828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575520454	chr5:57958829-57958830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566326610	chr5:57958994-57958995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539506489	chr5:57959000-57959001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183644537	chr5:57959007-57959008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572730898	chr5:57959009-57959010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187545824	chr5:57959033-57959034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559787713	chr5:57959072-57959073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558833182	chr5:57959085-57959086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575867628	chr5:57959204-57959205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371944046	chr5:57959299-57959300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1833611	chr5:57959302-57959303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563504499	chr5:57959338-57959339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192597961	chr5:57959360-57959361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552228902	chr5:57959382-57959383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57957200-57957800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:57957200-57957800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:57957400-57957800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:57957400-57958200	Enhancers	Fetal Stomach	stomach
5	chr5:57957800-57961000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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