Variant report

Variant	esv999397
Chromosome Location	chr5:42734662-42745020
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	chr5:42741787..42743927-chr5:42747329..42750299,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567421851	chr5:42734664-42734665	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs528182361	chr5:42734704-42734705	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs62373002	chr5:42734713-42734714	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs570501427	chr5:42734731-42734732	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs183951338	chr5:42734775-42734776	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556521668	chr5:42734791-42734792	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs138801046	chr5:42734828-42734829	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs537317205	chr5:42734837-42734838	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs555696457	chr5:42734838-42734839	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs574132983	chr5:42734839-42734840	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs62373003	chr5:42734854-42734855	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs553476122	chr5:42734872-42734873	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs578135224	chr5:42734876-42734877	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs545447803	chr5:42734877-42734878	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs371464428	chr5:42734880-42734881	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs559633879	chr5:42734888-42734889	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs575626718	chr5:42734889-42734890	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs542867176	chr5:42734909-42734910	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs370796310	chr5:42734928-42734929	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs146329909	chr5:42734939-42734940	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs546468878	chr5:42734954-42734955	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs374809708	chr5:42734965-42734966	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs532054439	chr5:42734973-42734974	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs188726718	chr5:42734981-42734982	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs201294327	chr5:42734998-42734999	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Bladder cancer	21909424	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42734400-42734800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr5:42734400-42735000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:42734600-42735000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr5:42734600-42735000	Active TSS	K562	blood

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