Variant report

Variant	nsv589943
Chromosome Location	chr3:22574169-22609529
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:22605268..22606284-chr3:22928941..22929846,5	MCF-7	breast:
2	chr3:22605314..22606827-chr3:23001573..23002522,7	MCF-7	breast:
3	chr3:22605215..22605962-chr3:22950443..22950968,2	MCF-7	breast:
4	chr3:22605347..22606025-chr3:22726006..22726863,2	MCF-7	breast:
5	chr3:22605202..22606238-chr3:22726881..22727802,6	MCF-7	breast:
6	chr3:22605258..22606015-chr3:22726589..22727722,7	MCF-7	breast:
7	chr3:22605331..22605851-chr3:22928978..22929585,2	MCF-7	breast:
8	chr3:22605358..22606044-chr3:22713391..22713898,2	MCF-7	breast:
9	chr3:22606338..22606850-chr3:22713171..22713815,2	MCF-7	breast:

No data

Extended variants
information (count: 1337 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1337 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144740346	chr3:22575661-22575662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553867547	chr3:22575685-22575686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564120552	chr3:22575686-22575687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148551958	chr3:22575730-22575731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561521517	chr3:22575771-22575772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142936875	chr3:22575786-22575787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529752621	chr3:22576042-22576043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375589802	chr3:22576092-22576093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34357681	chr3:22576124-22576125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9856346	chr3:22576135-22576136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145023499	chr3:22576158-22576159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566875607	chr3:22576179-22576180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147549764	chr3:22576206-22576207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536973793	chr3:22576216-22576217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141971579	chr3:22576217-22576218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570382230	chr3:22576262-22576263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184507138	chr3:22576275-22576276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535950641	chr3:22576282-22576283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144271164	chr3:22576289-22576290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536745599	chr3:22576302-22576303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555805564	chr3:22576313-22576314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11719717	chr3:22576404-22576405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189389698	chr3:22576412-22576413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543618315	chr3:22576435-22576436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145524665	chr3:22576464-22576465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181368762	chr3:22576482-22576483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186652451	chr3:22576483-22576484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569934639	chr3:22576532-22576533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368441585	chr3:22576537-22576538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6785666	chr3:22576545-22576546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529799476	chr3:22576666-22576667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58583854	chr3:22576674-22576675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563371487	chr3:22576677-22576678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372246026	chr3:22576678-22576679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189973285	chr3:22576721-22576722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181577430	chr3:22576725-22576726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570419498	chr3:22576730-22576731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529294890	chr3:22576784-22576785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6788496	chr3:22576816-22576817	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs369287707	chr3:22576916-22576917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566041589	chr3:22576934-22576935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536379566	chr3:22576942-22576943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555058359	chr3:22576954-22576955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576431343	chr3:22576957-22576958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148871558	chr3:22576985-22576986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559153797	chr3:22576989-22576990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577650440	chr3:22576998-22576999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541743933	chr3:22577040-22577041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559419821	chr3:22577066-22577067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574358853	chr3:22577074-22577075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	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
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22575600-22575800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:22576000-22577200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:22576800-22577200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:22577200-22579600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:22577200-22579600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:22577600-22578400	Enhancers	Primary hematopoietic stem cells	blood
7	chr3:22578000-22578200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:22578200-22579600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr3:22578600-22579800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:22579600-22580400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:22579800-22581000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:22580400-22581000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr3:22581000-22584800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:22584800-22585200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:22590800-22591200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:22591200-22596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:22595000-22595800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:22595800-22596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:22596800-22597400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:22596800-22597400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:22597000-22598200	Enhancers	Fetal Lung	lung
22	chr3:22597200-22597400	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr3:22597400-22598400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:22597400-22598600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:22598400-22599800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:22598600-22599400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:22599400-22604600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:22599800-22604600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:22604600-22606200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:22604600-22606200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:22605600-22606000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr3:22605800-22606200	Enhancers	HMEC	breast
33	chr3:22606200-22610400	Weak transcription	HMEC	breast

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