Variant report

Variant	nsv822068
Chromosome Location	chr3:43584795-43592360
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:43588935..43590972-chr3:43733450..43736043,2	K562	blood:
2	chr3:43585568..43586697-chr3:43679724..43680722,5	K562	blood:
3	chr3:43585085..43587438-chr3:43589479..43591274,2	K562	blood:
4	chr3:43581494..43583966-chr3:43589157..43591023,2	MCF-7	breast:
5	chr3:43587624..43589880-chr3:43590753..43592706,2	K562	blood:
6	chr3:43585068..43586639-chr3:43731094..43733341,2	K562	blood:
7	chr3:43585766..43588147-chr3:43731493..43734208,2	MCF-7	breast:
8	chr3:43587624..43589880-chr3:43590753..43592706,2	K562	blood:
9	chr3:43585085..43587438-chr3:43589479..43591274,2	K562	blood:
10	chr3:43592211..43594457-chr3:43680109..43681670,2	K562	blood:
11	chr3:43585797..43588014-chr3:43597479..43599689,2	K562	blood:
12	chr3:43582152..43584853-chr3:43729586..43732627,3	K562	blood:
13	chr3:43585360..43586350-chr3:43679714..43680476,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000011198	chromatin interactions
ENSG00000160746	chromatin interactions

Extended variants
information (count: 259 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113696348	chr3:43584855-43584856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71323195	chr3:43584870-43584871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575644733	chr3:43584873-43584874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368478954	chr3:43584886-43584887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140034288	chr3:43584890-43584891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142253351	chr3:43584919-43584920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571613409	chr3:43584943-43584944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548099088	chr3:43584945-43584946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3902207	chr3:43584967-43584968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539820413	chr3:43584968-43584969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556569283	chr3:43584969-43584970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576476239	chr3:43584975-43584976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535902731	chr3:43585038-43585039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555276550	chr3:43585046-43585047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189190992	chr3:43585082-43585083	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs372514301	chr3:43585083-43585084	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs541009480	chr3:43585105-43585106	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs556964387	chr3:43585115-43585116	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs557616632	chr3:43585146-43585147	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs577249866	chr3:43585174-43585175	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs543038339	chr3:43585210-43585211	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs562900753	chr3:43585216-43585217	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs528981392	chr3:43585223-43585224	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs151276155	chr3:43585227-43585228	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs1038202	chr3:43585255-43585256	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs527864742	chr3:43585268-43585269	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs542623354	chr3:43585311-43585312	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs17408925	chr3:43585398-43585399	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs114172118	chr3:43585439-43585440	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs17408953	chr3:43585523-43585524	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113612006	chr3:43585538-43585539	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs573389497	chr3:43585574-43585575	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs371669272	chr3:43585625-43585626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371075920	chr3:43585650-43585651	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs569992009	chr3:43585705-43585706	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535615251	chr3:43585723-43585724	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs540444789	chr3:43585789-43585790	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555825117	chr3:43585805-43585806	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs115350635	chr3:43585994-43585995	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs62250952	chr3:43586000-43586001	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs557492482	chr3:43586024-43586025	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs140473623	chr3:43586050-43586051	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs535921135	chr3:43586053-43586054	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs543275383	chr3:43586082-43586083	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs556581392	chr3:43586102-43586103	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs193112101	chr3:43586110-43586111	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs542386817	chr3:43586111-43586112	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs183930560	chr3:43586114-43586115	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs555910317	chr3:43586123-43586124	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs559385323	chr3:43586128-43586129	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43540200-43602200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:43542800-43588800	Weak transcription	Left Ventricle	heart
3	chr3:43544000-43617600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:43547600-43595800	Weak transcription	Fetal Stomach	stomach
5	chr3:43553000-43601600	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:43553600-43595800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:43554800-43589400	Weak transcription	HSMMtube	muscle
8	chr3:43556200-43624800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:43558600-43625600	Weak transcription	Lung	lung
10	chr3:43560800-43618000	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:43561200-43601200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:43561400-43600400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:43561600-43588800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:43561600-43589000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr3:43561600-43590600	Weak transcription	Ovary	ovary
16	chr3:43561600-43601000	Weak transcription	Pancreas	Pancrea
17	chr3:43561800-43590600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:43561800-43602000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr3:43562000-43589200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr3:43569600-43587800	Weak transcription	Primary T cells from cord blood	blood
21	chr3:43571000-43588000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:43571000-43594600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:43571000-43613600	Weak transcription	Gastric	stomach
24	chr3:43573800-43596400	Weak transcription	HMEC	breast
25	chr3:43573800-43601400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:43573800-43617800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:43574800-43662400	Weak transcription	Right Ventricle	heart
28	chr3:43576200-43586800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:43576200-43601000	Weak transcription	Esophagus	oesophagus
30	chr3:43576200-43623800	Weak transcription	Psoas Muscle	Psoas
31	chr3:43576400-43589000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:43576400-43613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:43576400-43621200	Weak transcription	NHEK	skin
34	chr3:43577000-43590800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:43577200-43595400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:43577400-43590600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:43577600-43625400	Weak transcription	HUVEC	blood vessel
38	chr3:43577800-43595000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:43578200-43599800	Weak transcription	Fetal Brain Female	brain
40	chr3:43578400-43593400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr3:43579000-43589200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr3:43579000-43590400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:43579000-43594600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr3:43579200-43590800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:43579200-43600200	Weak transcription	Liver	Liver
46	chr3:43580600-43647600	Weak transcription	Brain Angular Gyrus	brain
47	chr3:43580800-43613800	Weak transcription	Aorta	Aorta
48	chr3:43581000-43586400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:43581000-43589000	Weak transcription	HSMM	muscle
50	chr3:43581200-43589000	Weak transcription	Monocytes-CD14+_RO01746	blood

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