Variant report

Variant	esv3379714
Chromosome Location	chr5:35841120-35843568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188985737	chr5:35841129-35841130	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs367876086	chr5:35841216-35841217	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs139803700	chr5:35841230-35841231	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs70973069	chr5:35841231-35841232	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200686315	chr5:35841232-35841233	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs537034975	chr5:35841278-35841279	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs148042930	chr5:35841282-35841283	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs576788334	chr5:35841283-35841284	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs549354384	chr5:35841293-35841294	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs565337721	chr5:35841317-35841318	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs373545445	chr5:35841321-35841322	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs376814739	chr5:35841354-35841355	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs4351172	chr5:35841425-35841426	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10075764	chr5:35841449-35841450	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4635959	chr5:35841481-35841482	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs35467464	chr5:35841531-35841532	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs374856674	chr5:35841533-35841534	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs201218800	chr5:35841623-35841624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561058108	chr5:35841631-35841632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13179687	chr5:35841640-35841641	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375615252	chr5:35841666-35841667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190887077	chr5:35841701-35841702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182842299	chr5:35841708-35841709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532288827	chr5:35841733-35841734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552459111	chr5:35841802-35841803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535117962	chr5:35841809-35841810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs202103901	chr5:35841810-35841811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62355266	chr5:35841816-35841817	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs534820035	chr5:35841819-35841820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548126506	chr5:35841821-35841822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12054901	chr5:35841832-35841833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370914818	chr5:35841840-35841841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188141608	chr5:35841846-35841847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74192116	chr5:35841847-35841848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62355267	chr5:35841862-35841863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536014114	chr5:35841865-35841866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556981340	chr5:35841866-35841867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575875832	chr5:35841869-35841870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62355268	chr5:35841872-35841873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183878302	chr5:35841890-35841891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563731905	chr5:35841897-35841898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74193102	chr5:35841918-35841919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572553753	chr5:35841925-35841926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536137997	chr5:35841948-35841949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200303557	chr5:35841956-35841957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556079072	chr5:35841962-35841963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538937000	chr5:35841963-35841964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116520598	chr5:35841978-35841979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572509576	chr5:35841982-35841983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200968643	chr5:35842035-35842036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
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
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	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
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
Medulloblastoma	19270706	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
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	21147910	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35839000-35841800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:35839000-35842000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:35840000-35841200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:35840000-35841600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr5:35840000-35841600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr5:35840200-35841200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr5:35840800-35841400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:35840800-35841800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr5:35841000-35841200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:35841200-35841600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:35841600-35842600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:35841600-35842600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:35841600-35845200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:35841800-35842800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:35842000-35842400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:35842400-35843600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:35842600-35842800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr5:35842600-35843800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:35842800-35843200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr5:35842800-35845800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr5:35843000-35847000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:35843200-35843400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:35843400-35845800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--

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