Variant report

Variant	esv2763476
Chromosome Location	chr5:101298861-101303484
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529285022	chr5:101300800-101300801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6886984	chr5:101300824-101300825	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs368870282	chr5:101300891-101300892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566091747	chr5:101300914-101300915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539916267	chr5:101300917-101300918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184376924	chr5:101300972-101300973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562529150	chr5:101301010-101301011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551535434	chr5:101301011-101301012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569851369	chr5:101301012-101301013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371298527	chr5:101301056-101301057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537207411	chr5:101301084-101301085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189989161	chr5:101301102-101301103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35435657	chr5:101301130-101301131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34937259	chr5:101301142-101301143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192851554	chr5:101301170-101301171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144543429	chr5:101301191-101301192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10688189	chr5:101301192-101301193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs67106500	chr5:101301193-101301194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10655237	chr5:101301194-101301195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184831484	chr5:101301221-101301222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116281864	chr5:101301240-101301241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552924313	chr5:101301267-101301268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149871651	chr5:101301293-101301294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545092095	chr5:101301301-101301302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563209753	chr5:101301317-101301318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115147193	chr5:101301359-101301360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563511721	chr5:101301395-101301396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs899045	chr5:101301416-101301417	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs76372458	chr5:101301419-101301420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78305184	chr5:101301429-101301430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540899531	chr5:101301442-101301443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144950405	chr5:101301470-101301471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550805256	chr5:101301484-101301485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559708551	chr5:101301524-101301525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533143280	chr5:101301528-101301529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10039885	chr5:101301545-101301546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs370895722	chr5:101301561-101301562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570033399	chr5:101301582-101301583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs56111034	chr5:101301597-101301598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs149048516	chr5:101301609-101301610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143075012	chr5:101301648-101301649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534925788	chr5:101301713-101301714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552945838	chr5:101301744-101301745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372178301	chr5:101301745-101301746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577588424	chr5:101301754-101301755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139292992	chr5:101301766-101301767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532787528	chr5:101301776-101301777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11749954	chr5:101301778-101301779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552779051	chr5:101301786-101301787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546706381	chr5:101301834-101301835	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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	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
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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101300800-101303000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:101302000-101302800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:101302200-101302600	Enhancers	Brain Germinal Matrix	brain
4	chr5:101302200-101302800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:101302400-101302800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:101303000-101305400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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