Variant report

Variant	esv15521
Chromosome Location	chr5:108538428-108543579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 204 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:204 , 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	rs574436190	chr5:108538449-108538450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541566997	chr5:108538541-108538542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373223200	chr5:108538630-108538631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4342372	chr5:108538717-108538718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558377675	chr5:108538731-108538732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575085487	chr5:108538760-108538761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4463211	chr5:108538761-108538762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs138294180	chr5:108538794-108538795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114989474	chr5:108538855-108538856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185898123	chr5:108538866-108538867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559878461	chr5:108538894-108538895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528826467	chr5:108538895-108538896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200598846	chr5:108538914-108538915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552103027	chr5:108538941-108538942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201376340	chr5:108538957-108538958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199638615	chr5:108539010-108539011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531140266	chr5:108539019-108539020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149193788	chr5:108539035-108539036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571820749	chr5:108539040-108539041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536331128	chr5:108539052-108539053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189974524	chr5:108539095-108539096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566525091	chr5:108539097-108539098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547145815	chr5:108539150-108539151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4645373	chr5:108539172-108539173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs529348109	chr5:108539178-108539179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs5870354	chr5:108539221-108539222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374302155	chr5:108539225-108539226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74549961	chr5:108539226-108539227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182142361	chr5:108539254-108539255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575147422	chr5:108539263-108539264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544419675	chr5:108539271-108539272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146664910	chr5:108539281-108539282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4367335	chr5:108539333-108539334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs4409140	chr5:108539359-108539360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552029199	chr5:108539366-108539367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560239940	chr5:108539439-108539440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4320311	chr5:108539450-108539451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs139164229	chr5:108539477-108539478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565597829	chr5:108539484-108539485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531075513	chr5:108539510-108539511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186286099	chr5:108539520-108539521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7719087	chr5:108539525-108539526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs143073669	chr5:108539546-108539547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74902405	chr5:108539552-108539553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374152688	chr5:108539558-108539559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566585441	chr5:108539566-108539567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147045297	chr5:108539579-108539580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148081463	chr5:108539601-108539602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568829074	chr5:108539612-108539613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537734578	chr5:108539634-108539635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108503600-108540400	Weak transcription	Psoas Muscle	Psoas
2	chr5:108527800-108542800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:108532200-108540600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:108535400-108539400	Weak transcription	Left Ventricle	heart
5	chr5:108538400-108538600	Weak transcription	Aorta	Aorta
6	chr5:108540400-108540600	ZNF genes & repeats	Psoas Muscle	Psoas
7	chr5:108540600-108540800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin

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