Variant report

Variant	esv3397392
Chromosome Location	chr5:49528595-49550793
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	chr19:27733264..27735341-chr5:49544077..49545577,2	MCF-7	breast:

Extended variants
information (count: 2538 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2538 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367788207	chr5:49529005-49529006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs553563011	chr5:49529021-49529022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs573359252	chr5:49529033-49529034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs553115989	chr5:49529034-49529035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs202007000	chr5:49529046-49529047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs577534788	chr5:49529054-49529055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545624416	chr5:49529060-49529061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs558355302	chr5:49529067-49529068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575325362	chr5:49529069-49529070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs543833990	chr5:49529083-49529084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs560569837	chr5:49529106-49529107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs561081	chr5:49529137-49529138	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs142443231	chr5:49529154-49529155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs560064640	chr5:49529171-49529172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs532196719	chr5:49529182-49529183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs552381262	chr5:49529183-49529184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs201502133	chr5:49529185-49529186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs112496463	chr5:49529190-49529191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200535385	chr5:49529197-49529198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs112913683	chr5:49529211-49529212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs113421064	chr5:49529227-49529228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs151333745	chr5:49529236-49529237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs531054055	chr5:49529237-49529238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs550960051	chr5:49529252-49529253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs567671923	chr5:49529254-49529255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs536898181	chr5:49529270-49529271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201417077	chr5:49529273-49529274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs553694913	chr5:49529291-49529292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs371991485	chr5:49529337-49529338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs139677043	chr5:49529341-49529342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs144444505	chr5:49529346-49529347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs538836472	chr5:49529355-49529356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs369627667	chr5:49529364-49529365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs199626859	chr5:49529379-49529380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201903676	chr5:49529392-49529393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs562610604	chr5:49529405-49529406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs554098330	chr5:49529408-49529409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs75456161	chr5:49529409-49529410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs560320343	chr5:49529413-49529414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs76419256	chr5:49529417-49529418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs78897709	chr5:49529421-49529422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs146695213	chr5:49529424-49529425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs58557737	chr5:49529431-49529432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
44	rs75192643	chr5:49529443-49529444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs542926460	chr5:49529446-49529447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs201996582	chr5:49529451-49529452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs180708749	chr5:49529460-49529461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs111465085	chr5:49529461-49529462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113712998	chr5:49529464-49529465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs79515027	chr5:49529465-49529466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Hepatocellular carcinoma	16750200	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

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49529000-49550200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:49529400-49535600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr5:49529600-49542200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr5:49529800-49542000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr5:49532200-49534000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
6	chr5:49532400-49534200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:49533000-49534000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:49533200-49534000	ZNF genes & repeats	Left Ventricle	heart
9	chr5:49533200-49534200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr5:49533400-49534000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:49533400-49534200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:49533400-49534200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr5:49533600-49534000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:49533600-49534000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:49533600-49534000	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr5:49533600-49534000	Active TSS	Aorta	Aorta
17	chr5:49533600-49534000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
18	chr5:49533600-49534000	ZNF genes & repeats	Colon Smooth Muscle	Colon
19	chr5:49533600-49534000	Active TSS	Right Atrium	heart
20	chr5:49533800-49534000	ZNF genes & repeats	Primary T cells from cord blood	blood
21	chr5:49533800-49534000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
22	chr5:49533800-49534000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
23	chr5:49533800-49534000	ZNF genes & repeats	Brain Angular Gyrus	brain
24	chr5:49533800-49534000	ZNF genes & repeats	Fetal Lung	lung
25	chr5:49533800-49534000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
26	chr5:49533800-49534000	ZNF genes & repeats	Small Intestine	intestine
27	chr5:49534000-49535000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:49534200-49534800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:49535000-49535400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
30	chr5:49535000-49536800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:49536400-49536600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:49536400-49536800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:49536600-49541600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:49537600-49538000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:49538000-49539600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:49539000-49539200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
37	chr5:49539000-49549400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr5:49539200-49541400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr5:49539600-49540000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:49540000-49541400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:49541000-49541200	Weak transcription	NH-A	brain
42	chr5:49541000-49548800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
43	chr5:49541400-49541600	Active TSS	NHLF	lung
44	chr5:49541400-49541800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:49541400-49541800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:49541400-49541800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
47	chr5:49541400-49541800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:49541400-49541800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
49	chr5:49541400-49541800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
50	chr5:49541400-49541800	ZNF genes & repeats	Brain Hippocampus Middle	brain

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