Variant report

Variant	esv3470449
Chromosome Location	chr5:41226814-41243968
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	chr5:41243368..41245304-chr5:41252491..41255369,2	K562	blood:

Extended variants
information (count: 214 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533945690	chr5:41239017-41239018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544098351	chr5:41239028-41239029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555755938	chr5:41239036-41239037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574192317	chr5:41239070-41239071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12516670	chr5:41239081-41239082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573601424	chr5:41239122-41239123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533102226	chr5:41239195-41239196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370052433	chr5:41239209-41239210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563146923	chr5:41239213-41239214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200772516	chr5:41239214-41239215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191512127	chr5:41239217-41239218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34322889	chr5:41239231-41239232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368047662	chr5:41239236-41239237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183774683	chr5:41239253-41239254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562581721	chr5:41239254-41239255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188655891	chr5:41239341-41239342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530399295	chr5:41239360-41239361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549278257	chr5:41239370-41239371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193266456	chr5:41239379-41239380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111649834	chr5:41239386-41239387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546522157	chr5:41239393-41239394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183622104	chr5:41239395-41239396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571098999	chr5:41239415-41239416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539553632	chr5:41239444-41239445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1838497	chr5:41239513-41239514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114989178	chr5:41239557-41239558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377293076	chr5:41239576-41239577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537015582	chr5:41239607-41239608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565013875	chr5:41239617-41239618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555716642	chr5:41239639-41239640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574299992	chr5:41239647-41239648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541702321	chr5:41239770-41239771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115448232	chr5:41239859-41239860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116340141	chr5:41239891-41239892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150790519	chr5:41239953-41239954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545148910	chr5:41239990-41239991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563339858	chr5:41239992-41239993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186816187	chr5:41240029-41240030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533951741	chr5:41240097-41240098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542282588	chr5:41240135-41240136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560933005	chr5:41240137-41240138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139426297	chr5:41240169-41240170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554206887	chr5:41240172-41240173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546447427	chr5:41240180-41240181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116824310	chr5:41240280-41240281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527346970	chr5:41240296-41240297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532146246	chr5:41240297-41240298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144167342	chr5:41240315-41240316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114729308	chr5:41240395-41240396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113480612	chr5:41240413-41240414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	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	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	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
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41239000-41248000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:41241000-41241400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr5:41241000-41241800	Enhancers	Rectal Mucosa Donor 31	rectum

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