Variant report

Variant	nsv1020912
Chromosome Location	chr5:49542837-49624358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:49582327..49585190-chr5:49585365..49588031,2	MCF-7	breast:
2	chr3:86369536..86370596-chr5:49615936..49616959,3	MCF-7	breast:
3	chr5:49597764..49600386-chr5:49604629..49608751,3	MCF-7	breast:
4	chr19:27733264..27735341-chr5:49544077..49545577,2	MCF-7	breast:
5	chr5:49582327..49585190-chr5:49585365..49588031,2	MCF-7	breast:
6	chr5:49575168..49577316-chr5:49582387..49584050,2	MCF-7	breast:
7	chr5:49575168..49577316-chr5:49582387..49584050,2	MCF-7	breast:
8	chr5:49597764..49600386-chr5:49604629..49608751,3	MCF-7	breast:

No data

Extended variants
information (count: 2672 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2672 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542505961	chr5:49542846-49542847	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111561937	chr5:49542856-49542857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201289614	chr5:49542889-49542890	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552884009	chr5:49542894-49542895	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144979040	chr5:49542895-49542896	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572681027	chr5:49542915-49542916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182131884	chr5:49542934-49542935	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564572724	chr5:49542943-49542944	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112307325	chr5:49542951-49542952	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569851336	chr5:49542960-49542961	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569840376	chr5:49542961-49542962	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543754271	chr5:49542967-49542968	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563661912	chr5:49542991-49542992	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113423684	chr5:49543001-49543002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529338256	chr5:49543005-49543006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530593721	chr5:49543030-49543031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142733313	chr5:49543031-49543032	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549072870	chr5:49543034-49543035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566397570	chr5:49543037-49543038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564568836	chr5:49543059-49543060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376148942	chr5:49543083-49543084	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114181312	chr5:49543088-49543089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140587549	chr5:49543089-49543090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113939232	chr5:49543096-49543097	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566907132	chr5:49543098-49543099	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148062709	chr5:49543101-49543102	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552822374	chr5:49543109-49543110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573073611	chr5:49543110-49543111	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374444336	chr5:49543111-49543112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571744588	chr5:49543114-49543115	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143303467	chr5:49543116-49543117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201277360	chr5:49543119-49543120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545150050	chr5:49543126-49543127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558477640	chr5:49543156-49543157	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537189199	chr5:49543177-49543178	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111672501	chr5:49543196-49543197	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111920244	chr5:49543237-49543238	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575434508	chr5:49543252-49543253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543535156	chr5:49543256-49543257	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186775067	chr5:49543258-49543259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534788005	chr5:49543273-49543274	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62387305	chr5:49543294-49543295	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369906112	chr5:49543296-49543297	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574052696	chr5:49543297-49543298	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543058227	chr5:49543305-49543306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143492170	chr5:49543317-49543318	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528782424	chr5:49543350-49543351	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567296363	chr5:49543362-49543363	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552096869	chr5:49543416-49543417	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367843397	chr5:49543421-49543422	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:72 , 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	chr5:49539000-49549400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr5:49541000-49548800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr5:49541400-49543000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr5:49541400-49543600	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr5:49542800-49546600	Weak transcription	Right Atrium	heart
7	chr5:49545400-49545600	ZNF genes & repeats	HepG2	liver
8	chr5:49545400-49548800	ZNF genes & repeats	Liver	Liver
9	chr5:49546200-49552600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr5:49546600-49546800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
11	chr5:49546600-49546800	ZNF genes & repeats	Brain Anterior Caudate	brain
12	chr5:49546600-49547000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:49546600-49547000	ZNF genes & repeats	Psoas Muscle	Psoas
14	chr5:49546600-49547000	Active TSS	Right Atrium	heart
15	chr5:49546600-49547600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:49546600-49547600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:49547200-49548200	Active TSS	NHLF	lung
18	chr5:49551000-49552200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr5:49551600-49552400	ZNF genes & repeats	Liver	Liver
20	chr5:49559200-49559400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:49559200-49559600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr5:49559200-49559600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
23	chr5:49560800-49561000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:49564800-49565000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
25	chr5:49576000-49576400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr5:49588400-49589200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:49588600-49589000	ZNF genes & repeats	Spleen	Spleen
28	chr5:49588600-49589200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:49588600-49589200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:49596400-49599400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:49596400-49599400	Enhancers	HMEC	breast
32	chr5:49596600-49599800	Enhancers	NHEK	skin
33	chr5:49596800-49597000	Enhancers	A549	lung
34	chr5:49597200-49598600	Weak transcription	A549	lung
35	chr5:49597800-49598600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:49597800-49598600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr5:49598200-49599400	Enhancers	Osteobl	bone
38	chr5:49598200-49599600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:49598400-49599000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:49598600-49598800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:49598600-49598800	Enhancers	A549	lung
42	chr5:49598600-49599000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr5:49598600-49599400	Enhancers	HSMM	muscle
44	chr5:49598800-49599200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:49598800-49599400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:49598800-49599400	Active TSS	A549	lung
47	chr5:49599000-49599200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr5:49599200-49599400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr5:49599200-49599600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:49599400-49600200	Enhancers	Muscle Satellite Cultured Cells	--

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