Variant report

Variant	esv2554556
Chromosome Location	chr5:91246783-91248103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62368397	chr5:91246787-91246788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568030343	chr5:91246789-91246790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188154235	chr5:91246815-91246816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537370096	chr5:91246816-91246817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557601317	chr5:91246822-91246823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377439555	chr5:91246856-91246857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576057126	chr5:91246862-91246863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77119243	chr5:91246873-91246874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539603278	chr5:91246884-91246885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553053515	chr5:91246887-91246888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537714378	chr5:91246938-91246939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573046301	chr5:91246952-91246953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541910247	chr5:91246991-91246992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554773084	chr5:91246996-91246997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561968841	chr5:91246997-91246998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565627243	chr5:91247025-91247026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575566994	chr5:91247030-91247031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543368288	chr5:91247043-91247044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563557564	chr5:91247077-91247078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532212264	chr5:91247113-91247114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552449192	chr5:91247142-91247143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142155114	chr5:91247157-91247158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559579411	chr5:91247221-91247222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115067693	chr5:91247250-91247251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548283806	chr5:91247279-91247280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536778750	chr5:91247337-91247338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16870279	chr5:91247371-91247372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs150765062	chr5:91247372-91247373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139209616	chr5:91247413-91247414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192678585	chr5:91247468-91247469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538113722	chr5:91247491-91247492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571077756	chr5:91247498-91247499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539740510	chr5:91247503-91247504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553190464	chr5:91247543-91247544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573080856	chr5:91247545-91247546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535575695	chr5:91247605-91247606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553495514	chr5:91247617-91247618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184131802	chr5:91247643-91247644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575559567	chr5:91247672-91247673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544550407	chr5:91247703-91247704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564322851	chr5:91247704-91247705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556422850	chr5:91247711-91247712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577253111	chr5:91247727-91247728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201071841	chr5:91247743-91247744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546105375	chr5:91247784-91247785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559613921	chr5:91247786-91247787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528266032	chr5:91247797-91247798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548318527	chr5:91247800-91247801	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs573324633	chr5:91247849-91247850	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561779552	chr5:91247853-91247854	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
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
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91246200-91247200	Enhancers	Fetal Heart	heart
2	chr5:91247200-91247600	Weak transcription	Fetal Heart	heart
3	chr5:91247600-91247800	Enhancers	Fetal Heart	heart
4	chr5:91247800-91248000	Flanking Active TSS	Fetal Heart	heart
5	chr5:91247800-91248200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr5:91248000-91248200	Active TSS	Fetal Heart	heart

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