Variant report

Variant	esv3373526
Chromosome Location	chr5:108265078-108267626
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573569493	chr5:108265105-108265106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142295226	chr5:108265164-108265165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10057273	chr5:108265183-108265184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555075124	chr5:108265210-108265211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535459291	chr5:108265241-108265242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572898171	chr5:108265262-108265263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544824374	chr5:108265277-108265278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73780772	chr5:108265278-108265279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs372947376	chr5:108265296-108265297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529996209	chr5:108265301-108265302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576593893	chr5:108265318-108265319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555985015	chr5:108265323-108265324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530556532	chr5:108265353-108265354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368896922	chr5:108265543-108265544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151250984	chr5:108265559-108265560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372857564	chr5:108265603-108265604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528105908	chr5:108265636-108265637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187794885	chr5:108265637-108265638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375191505	chr5:108265678-108265679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73209333	chr5:108265706-108265707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566097848	chr5:108265717-108265718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565272948	chr5:108265838-108265839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551615198	chr5:108265885-108265886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192188797	chr5:108266003-108266004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184395743	chr5:108266049-108266050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572639474	chr5:108266053-108266054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370160177	chr5:108266071-108266072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111302716	chr5:108266072-108266073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149826977	chr5:108266075-108266076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180697082	chr5:108266076-108266077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372995937	chr5:108266086-108266087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200130880	chr5:108266223-108266224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111746056	chr5:108266229-108266230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113281845	chr5:108266260-108266261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537067219	chr5:108266309-108266310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201095029	chr5:108266312-108266313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111734068	chr5:108266353-108266354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77761356	chr5:108266383-108266384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72793918	chr5:108266428-108266429	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs113999354	chr5:108266429-108266430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563489235	chr5:108266470-108266471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114553144	chr5:108266531-108266532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541739124	chr5:108266535-108266536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139466120	chr5:108266543-108266544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72793920	chr5:108266592-108266593	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs143507372	chr5:108266595-108266596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531286068	chr5:108266599-108266600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374935473	chr5:108266630-108266631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544243990	chr5:108266667-108266668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549513820	chr5:108266676-108266677	Weak transcription Strong 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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108197000-108268200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:108199200-108271400	Weak transcription	Aorta	Aorta
3	chr5:108203800-108323400	Weak transcription	Primary B cells from cord blood	blood
4	chr5:108208200-108268800	Weak transcription	Primary T cells from cord blood	blood
5	chr5:108214200-108272200	Weak transcription	Gastric	stomach
6	chr5:108217600-108323200	Weak transcription	Left Ventricle	heart
7	chr5:108221400-108280600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:108229600-108269800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:108230200-108302400	Weak transcription	HSMM	muscle
10	chr5:108242200-108271000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:108244200-108295000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:108247200-108277600	Weak transcription	Fetal Lung	lung
13	chr5:108250400-108277600	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:108254000-108266400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:108254000-108269400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:108254000-108311200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:108260400-108268000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:108260600-108267200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:108260600-108269800	Weak transcription	Fetal Intestine Small	intestine
20	chr5:108260600-108270800	Weak transcription	Ovary	ovary
21	chr5:108260600-108277600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:108263400-108271000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:108265600-108268200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:108265600-108269800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:108266400-108268400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:108267200-108268200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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