Variant report

Variant	esv2763467
Chromosome Location	chr5:80852616-80872981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:80872758..80875728-chr5:80879949..80882376,2	K562	blood:
2	chr5:80859809..80862860-chr5:80870280..80872948,3	K562	blood:
3	chr5:80859809..80862860-chr5:80870280..80872948,3	K562	blood:
4	chr5:80870794..80873300-chr5:80875722..80877575,2	K562	blood:
5	chr5:80848254..80852026-chr5:80853882..80857592,4	K562	blood:
6	chr5:80853359..80856106-chr5:80858395..80860848,2	K562	blood:
7	chr5:80853359..80856106-chr5:80858395..80860848,2	K562	blood:

Extended variants
information (count: 677 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:677 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139184257	chr5:80852636-80852637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558673035	chr5:80852772-80852773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575239019	chr5:80852778-80852779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73766265	chr5:80852818-80852819	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554507463	chr5:80852861-80852862	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574252083	chr5:80852904-80852905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542884728	chr5:80852912-80852913	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149885572	chr5:80852924-80852925	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528646715	chr5:80852945-80852946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545125919	chr5:80852962-80852963	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4274955	chr5:80852995-80852996	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181677359	chr5:80853050-80853051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567986652	chr5:80853082-80853083	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560378925	chr5:80853188-80853189	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34615924	chr5:80853194-80853195	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144883574	chr5:80853238-80853239	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567605613	chr5:80853241-80853242	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376545415	chr5:80853242-80853243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6874274	chr5:80853279-80853280	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs566709724	chr5:80853312-80853313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80135441	chr5:80853319-80853320	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558724056	chr5:80853353-80853354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73766267	chr5:80853365-80853366	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570965269	chr5:80853368-80853369	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116497462	chr5:80853370-80853371	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6874029	chr5:80853386-80853387	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574339401	chr5:80853466-80853467	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542948135	chr5:80853474-80853475	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185732377	chr5:80853509-80853510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189027509	chr5:80853528-80853529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545187475	chr5:80853530-80853531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6895882	chr5:80853543-80853544	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs181042085	chr5:80853561-80853562	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544666867	chr5:80853595-80853596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201981134	chr5:80853651-80853652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367876363	chr5:80853706-80853707	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10056236	chr5:80853708-80853709	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs6896235	chr5:80853765-80853766	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185625696	chr5:80853822-80853823	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532403927	chr5:80853843-80853844	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552401384	chr5:80853897-80853898	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569003233	chr5:80853967-80853968	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148648257	chr5:80854085-80854086	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537559166	chr5:80854141-80854142	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369722341	chr5:80854291-80854292	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11268519	chr5:80854317-80854318	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs33949335	chr5:80854318-80854319	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73766269	chr5:80854332-80854333	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73766270	chr5:80854334-80854335	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115162039	chr5:80854339-80854340	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Tetralogy of Fallot	22912587	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
2	chr5:80825200-80865200	Weak transcription	Fetal Brain Male	brain
3	chr5:80828800-80863400	Weak transcription	Fetal Lung	lung
4	chr5:80830000-80853800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:80834400-80867000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:80834800-80866400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:80834800-80870000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:80835200-80863000	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:80835200-80872800	Weak transcription	Fetal Kidney	kidney
10	chr5:80835200-80875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:80835600-80876000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr5:80840800-80883400	Weak transcription	HSMM	muscle
13	chr5:80840800-80884600	Weak transcription	Ovary	ovary
14	chr5:80844200-80884600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:80845800-80862000	Weak transcription	Thymus	Thymus
16	chr5:80845800-80863000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:80846200-80880600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:80846600-80860000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:80848000-80856400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:80849000-80885600	Weak transcription	Left Ventricle	heart
21	chr5:80849400-80856200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:80850000-80860000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:80850000-80862000	Weak transcription	Primary B cells from cord blood	blood
24	chr5:80850200-80862000	Weak transcription	Primary T cells from cord blood	blood
25	chr5:80850800-80864000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:80850800-80866800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:80851400-80853400	Weak transcription	Dnd41	blood
28	chr5:80851400-80853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:80851400-80853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:80852200-80854200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr5:80852600-80852800	Weak transcription	Fetal Thymus	thymus
32	chr5:80852800-80853400	Enhancers	GM12878-XiMat	blood
33	chr5:80852800-80854200	Strong transcription	Fetal Thymus	thymus
34	chr5:80853400-80854200	Enhancers	Dnd41	blood
35	chr5:80853800-80854200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr5:80853800-80854600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:80853800-80854800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:80854200-80854400	Genic enhancers	Fetal Thymus	thymus
39	chr5:80854200-80859000	Weak transcription	Dnd41	blood
40	chr5:80854200-80859800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr5:80854400-80862200	Weak transcription	Fetal Thymus	thymus
42	chr5:80854600-80859600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:80854800-80858600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:80856000-80856400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:80856200-80856600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr5:80856600-80860000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:80858600-80858800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:80858800-80860400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:80859000-80859600	Enhancers	Dnd41	blood
50	chr5:80859000-80863400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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