Variant report

Variant	esv2762531
Chromosome Location	chr5:99614601-99722098
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:98440068..98440810-chr5:99647288..99647935,2	MCF-7	breast:
2	chr5:98656230..98656989-chr5:99647221..99648200,3	MCF-7	breast:

Extended variants
information (count: 395 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541795409	chr5:99634431-99634432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11309272	chr5:99634440-99634441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201492292	chr5:99634444-99634445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560377226	chr5:99634465-99634466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573194633	chr5:99634485-99634486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73776500	chr5:99634549-99634550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs452422	chr5:99634622-99634623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577893114	chr5:99634651-99634652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139232321	chr5:99634691-99634692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183231603	chr5:99634695-99634696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187846456	chr5:99634704-99634705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6865537	chr5:99634772-99634773	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149984393	chr5:99634813-99634814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs794981	chr5:99634891-99634892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530292276	chr5:99634907-99634908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370515589	chr5:99634947-99634948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79692618	chr5:99634959-99634960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113738384	chr5:99634971-99634972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376404984	chr5:99634996-99634997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371102885	chr5:99634998-99634999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140100439	chr5:99635010-99635011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192426392	chr5:99635059-99635060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570087921	chr5:99635084-99635085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577795636	chr5:99635090-99635091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6880337	chr5:99635098-99635099	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77662649	chr5:99635123-99635124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372901918	chr5:99635125-99635126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200268850	chr5:99635126-99635127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555827737	chr5:99635149-99635150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544066891	chr5:99635178-99635179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183375488	chr5:99635213-99635214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535639174	chr5:99635219-99635220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565554175	chr5:99635228-99635229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553642475	chr5:99635251-99635252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144089929	chr5:99635258-99635259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188731623	chr5:99635265-99635266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532737944	chr5:99635315-99635316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560056346	chr5:99635327-99635328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10057415	chr5:99635335-99635336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577293806	chr5:99635346-99635347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192618211	chr5:99635380-99635381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562995437	chr5:99635393-99635394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530270930	chr5:99635452-99635453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs58648045	chr5:99635533-99635534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs551345832	chr5:99635539-99635540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528001838	chr5:99635575-99635576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375716521	chr5:99635632-99635633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570150634	chr5:99635647-99635648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531188228	chr5:99635679-99635680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549659698	chr5:99635698-99635699	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99634400-99634800	Enhancers	Dnd41	blood
2	chr5:99634400-99634800	Enhancers	HMEC	breast
3	chr5:99634400-99636200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:99634600-99635000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:99634600-99635000	Enhancers	NHEK	skin
6	chr5:99634600-99635600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr5:99637400-99637600	Enhancers	Brain Germinal Matrix	brain
8	chr5:99637600-99638200	Weak transcription	Brain Germinal Matrix	brain
9	chr5:99638200-99639000	Enhancers	Brain Germinal Matrix	brain
10	chr5:99639000-99639400	Weak transcription	Brain Germinal Matrix	brain
11	chr5:99639400-99640800	Enhancers	Brain Germinal Matrix	brain
12	chr5:99641400-99642400	Enhancers	HUVEC	blood vessel
13	chr5:99641600-99642200	Enhancers	NHEK	skin
14	chr5:99641800-99642200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:99649000-99649800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:99649200-99649800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr5:99649200-99650000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:99649200-99650000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:99687600-99688000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:99696400-99696600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:99699800-99700000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:99699800-99700400	Enhancers	A549	lung
23	chr5:99699800-99700400	Enhancers	NH-A	brain
24	chr5:99699800-99702000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:99700000-99700200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:99700000-99700200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr5:99700000-99700600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:99700200-99700400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:99700200-99701000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:99700200-99701400	Enhancers	Osteobl	bone
31	chr5:99700400-99700600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr5:99700400-99700600	Flanking Active TSS	NH-A	brain
33	chr5:99700400-99701000	Enhancers	Fetal Lung	lung
34	chr5:99700400-99701200	Active TSS	A549	lung
35	chr5:99700600-99700800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:99700600-99700800	Enhancers	NH-A	brain
37	chr5:99700800-99701000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr5:99700800-99701000	Flanking Active TSS	NH-A	brain
39	chr5:99701000-99701400	Enhancers	NH-A	brain
40	chr5:99701000-99702000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr5:99701000-99702200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:99701200-99701400	Flanking Active TSS	A549	lung
43	chr5:99701800-99702200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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