Variant report

Variant	nsv524243
Chromosome Location	chr10:487973-491349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:487259..489180-chr10:496011..497832,2	MCF-7	breast:
2	chr10:488559..490151-chr10:500981..502924,2	MCF-7	breast:
3	chr10:485797..489382-chr10:492522..494449,3	MCF-7	breast:

Extended variants
information (count: 176 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4881313	chr10:487973-487974	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533786230	chr10:488041-488042	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564289273	chr10:488115-488116	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533147742	chr10:488127-488128	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375522890	chr10:488133-488134	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74114802	chr10:488151-488152	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562780908	chr10:488209-488210	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142465973	chr10:488211-488212	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548331007	chr10:488237-488238	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568271575	chr10:488244-488245	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533823441	chr10:488250-488251	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113551601	chr10:488264-488265	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35250636	chr10:488290-488291	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151322092	chr10:488292-488293	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538491731	chr10:488310-488311	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570599411	chr10:488338-488339	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528571055	chr10:488365-488366	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188352281	chr10:488426-488427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180871173	chr10:488461-488462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576645111	chr10:488464-488465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573554316	chr10:488482-488483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76452607	chr10:488488-488489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79945599	chr10:488498-488499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7920177	chr10:488562-488563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541269695	chr10:488591-488592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564225804	chr10:488600-488601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577745037	chr10:488648-488649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543772297	chr10:488655-488656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183502990	chr10:488727-488728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188072559	chr10:488739-488740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565464289	chr10:488747-488748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79027945	chr10:488784-488785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577188757	chr10:488788-488789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527471068	chr10:488822-488823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78654819	chr10:488830-488831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570538376	chr10:488858-488859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146589881	chr10:488860-488861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575791765	chr10:488933-488934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544650115	chr10:488968-488969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549188832	chr10:488995-488996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76910618	chr10:488996-488997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569556464	chr10:488998-488999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535482395	chr10:489079-489080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537925485	chr10:489090-489091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555633244	chr10:489120-489121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115576052	chr10:489133-489134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182531767	chr10:489150-489151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377754881	chr10:489160-489161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561238692	chr10:489190-489191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557951967	chr10:489192-489193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:395800-489400	Weak transcription	Stomach Mucosa	stomach
2	chr10:436600-521200	Weak transcription	HepG2	liver
3	chr10:443400-497000	Weak transcription	Psoas Muscle	Psoas
4	chr10:445800-498400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:456000-496600	Weak transcription	Fetal Heart	heart
6	chr10:463600-489600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:465400-490200	Weak transcription	Brain Substantia Nigra	brain
8	chr10:466200-500000	Weak transcription	NHDF-Ad	bronchial
9	chr10:466400-497200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:467600-496600	Weak transcription	Colon Smooth Muscle	Colon
11	chr10:468800-490000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr10:468800-496200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:469600-496800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:469800-496600	Weak transcription	Adipose Nuclei	Adipose
15	chr10:474800-495000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:476800-500000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr10:479800-503600	Weak transcription	NHLF	lung
18	chr10:482600-489400	Weak transcription	Lung	lung
19	chr10:482600-498400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr10:482600-498400	Weak transcription	Spleen	Spleen
21	chr10:483000-503600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr10:483400-489000	Weak transcription	Colonic Mucosa	Colon
23	chr10:483400-491400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:483400-499400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:483600-488800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr10:483600-491600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:483600-491800	Weak transcription	Fetal Intestine Large	intestine
28	chr10:483600-498600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:483600-498600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:483600-501000	Weak transcription	Esophagus	oesophagus
31	chr10:484000-491400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr10:484600-491400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr10:484600-492600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr10:484600-496000	Weak transcription	Brain Hippocampus Middle	brain
35	chr10:484800-491600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr10:485000-490600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr10:485400-488200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr10:485400-491800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr10:485400-492400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr10:485400-494800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr10:485400-496400	Weak transcription	Ovary	ovary
42	chr10:485600-491600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr10:485600-496200	Weak transcription	Aorta	Aorta
44	chr10:485600-498600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr10:485800-488400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr10:485800-496400	Weak transcription	Fetal Lung	lung
47	chr10:486000-498200	Weak transcription	Fetal Brain Female	brain
48	chr10:486000-500600	Weak transcription	NH-A	brain
49	chr10:486400-496000	Weak transcription	Brain Angular Gyrus	brain
50	chr10:486400-496200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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