Variant report

Variant	nsv549754
Chromosome Location	chr10:463246-464216
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:415244..418215-chr10:463219..466142,2	MCF-7	breast:
2	chr10:460205..463295-chr10:478508..482551,4	MCF-7	breast:
3	chr10:461373..464644-chr10:474177..477326,3	MCF-7	breast:
4	chr10:460256..464183-chr10:464558..467613,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239822	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs4880660	chr10:463246-463247	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569737521	chr10:463250-463251	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564420241	chr10:463253-463254	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78950727	chr10:463259-463260	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543467440	chr10:463260-463261	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs72772877	chr10:463263-463264	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185248552	chr10:463273-463274	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549095015	chr10:463276-463277	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559137528	chr10:463321-463322	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528701370	chr10:463341-463342	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs551656171	chr10:463373-463374	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs59304968	chr10:463378-463379	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs398113959	chr10:463380-463381	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs397800040	chr10:463381-463382	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116327274	chr10:463422-463423	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148672954	chr10:463425-463426	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550604035	chr10:463433-463434	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567322209	chr10:463442-463443	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs142153997	chr10:463451-463452	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188762995	chr10:463461-463462	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573219569	chr10:463464-463465	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12779160	chr10:463488-463489	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557643499	chr10:463505-463506	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs192066604	chr10:463523-463524	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543730607	chr10:463537-463538	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371574848	chr10:463546-463547	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371910380	chr10:463562-463563	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376276974	chr10:463571-463572	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11252300	chr10:463573-463574	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs11252301	chr10:463577-463578	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs111313987	chr10:463579-463580	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs11252302	chr10:463594-463595	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs559422236	chr10:463599-463600	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs11252303	chr10:463600-463601	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs563143586	chr10:463607-463608	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs369739167	chr10:463609-463610	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs74114783	chr10:463611-463612	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs372295603	chr10:463612-463613	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs75297125	chr10:463614-463615	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs72772878	chr10:463615-463616	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368968906	chr10:463617-463618	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs550869499	chr10:463621-463622	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10904175	chr10:463631-463632	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111319815	chr10:463632-463633	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567580566	chr10:463636-463637	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10904176	chr10:463637-463638	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530054942	chr10:463644-463645	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188374979	chr10:463645-463646	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs74207113	chr10:463649-463650	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12761330	chr10:463667-463668	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	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:106 , 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	chr10:423600-480200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr10:436600-480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr10:436600-521200	Weak transcription	HepG2	liver
5	chr10:436800-468000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr10:436800-469000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr10:441600-466600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr10:443400-497000	Weak transcription	Psoas Muscle	Psoas
9	chr10:444200-466000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:445800-498400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr10:449600-469200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr10:450600-469800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:450600-469800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:452000-466200	Strong transcription	Osteobl	bone
15	chr10:453400-485600	Weak transcription	Fetal Kidney	kidney
16	chr10:453600-468200	Weak transcription	Spleen	Spleen
17	chr10:453600-468400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:453600-469800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:454200-469800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:454800-465800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr10:455000-471800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:455000-480200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr10:455800-465200	Weak transcription	Pancreas	Pancrea
24	chr10:455800-468000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr10:456000-496600	Weak transcription	Fetal Heart	heart
26	chr10:456200-483200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr10:456600-469800	Strong transcription	Fetal Stomach	stomach
28	chr10:457600-466600	Strong transcription	Ovary	ovary
29	chr10:458000-469800	Strong transcription	Adipose Nuclei	Adipose
30	chr10:458200-464400	Weak transcription	NHDF-Ad	bronchial
31	chr10:458400-468800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr10:458800-463400	Strong transcription	Brain Germinal Matrix	brain
33	chr10:458800-464400	Weak transcription	Fetal Brain Male	brain
34	chr10:458800-469800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:458800-470800	Weak transcription	HSMM	muscle
36	chr10:458800-471200	Weak transcription	NH-A	brain
37	chr10:459000-463600	Genic enhancers	Fetal Muscle Trunk	muscle
38	chr10:459200-470000	Weak transcription	Small Intestine	intestine
39	chr10:459600-465200	Strong transcription	Brain Hippocampus Middle	brain
40	chr10:459600-466800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr10:459800-466800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:460000-464600	Weak transcription	Colonic Mucosa	Colon
43	chr10:460000-466000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr10:460000-466800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr10:460000-468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr10:460000-468800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr10:460200-463800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr10:460400-464200	Weak transcription	Left Ventricle	heart
49	chr10:460400-464400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:460400-464600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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