Variant report

Variant	nsv442169
Chromosome Location	chr10:1863064-1919687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1892660..1894538-chr10:1897061..1899093,2	K562	blood:
2	chr10:1886106..1888077-chr10:1890790..1892501,2	K562	blood:
3	chr10:1910694..1913328-chr10:1934835..1936567,2	MCF-7	breast:
4	chr10:1892660..1894538-chr10:1897061..1899093,2	K562	blood:
5	chr10:1886106..1888077-chr10:1890790..1892501,2	K562	blood:

Extended variants
information (count: 1632 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1632 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147379118	chr10:1867024-1867025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139144606	chr10:1867034-1867035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544774733	chr10:1867045-1867046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183939478	chr10:1867070-1867071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74363508	chr10:1867072-1867073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149520863	chr10:1867182-1867183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7091914	chr10:1867189-1867190	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs561648537	chr10:1867312-1867313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532109415	chr10:1867351-1867352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545522727	chr10:1867377-1867378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562763397	chr10:1867394-1867395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115341841	chr10:1867396-1867397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144126264	chr10:1867406-1867407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567929537	chr10:1867431-1867432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188662746	chr10:1867470-1867471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546668253	chr10:1867477-1867478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6560770	chr10:1867534-1867535	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7917078	chr10:1867568-1867569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558689168	chr10:1867586-1867587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7901929	chr10:1867623-1867624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76029801	chr10:1867637-1867638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555163298	chr10:1867658-1867659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575068584	chr10:1867714-1867715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4242732	chr10:1867762-1867763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544290447	chr10:1867770-1867771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145425590	chr10:1877018-1877019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370643120	chr10:1877050-1877051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375704208	chr10:1877052-1877053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76773057	chr10:1877057-1877058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561192911	chr10:1877063-1877064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111750549	chr10:1877073-1877074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185087936	chr10:1877121-1877122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576414267	chr10:1877131-1877132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28617223	chr10:1877144-1877145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35336752	chr10:1877164-1877165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560071436	chr10:1877170-1877171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149525222	chr10:1877194-1877195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369415309	chr10:1878801-1878802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs535611313	chr10:1878821-1878822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs114001283	chr10:1878855-1878856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs561181503	chr10:1878860-1878861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs530236614	chr10:1878864-1878865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs527992661	chr10:1878871-1878872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs369685501	chr10:1878875-1878876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs540600699	chr10:1878886-1878887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs560485762	chr10:1878893-1878894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs77982170	chr10:1878896-1878897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs552899396	chr10:1878905-1878906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs569572494	chr10:1878919-1878920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs4880933	chr10:1878939-1878940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1867000-1867800	Enhancers	Primary B cells from peripheral blood	blood
2	chr10:1877000-1877200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:1878800-1879000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:1883600-1884000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:1884000-1884200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:1884000-1884400	Enhancers	Pancreas	Pancrea
7	chr10:1886600-1888000	Enhancers	Dnd41	blood
8	chr10:1887600-1887800	Enhancers	Pancreas	Pancrea
9	chr10:1887800-1890000	Enhancers	Fetal Brain Male	brain
10	chr10:1889600-1890000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:1890000-1895200	Weak transcription	Fetal Brain Male	brain
12	chr10:1890000-1895400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:1893400-1894000	Enhancers	Hela-S3	cervix
14	chr10:1895200-1895800	Enhancers	Fetal Brain Male	brain
15	chr10:1895400-1895600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:1895600-1912800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:1895800-1897800	Weak transcription	Fetal Brain Male	brain
18	chr10:1897200-1899400	Enhancers	Brain Germinal Matrix	brain
19	chr10:1897800-1898000	Enhancers	Fetal Brain Male	brain
20	chr10:1898000-1898400	Weak transcription	Fetal Brain Male	brain
21	chr10:1898400-1898800	Enhancers	Fetal Brain Male	brain
22	chr10:1899400-1900000	Weak transcription	Brain Germinal Matrix	brain
23	chr10:1899600-1900000	Enhancers	Hela-S3	cervix
24	chr10:1900000-1900200	Enhancers	Brain Germinal Matrix	brain
25	chr10:1900200-1900600	Enhancers	Hela-S3	cervix
26	chr10:1900400-1901000	Enhancers	Gastric	stomach
27	chr10:1900400-1901200	Enhancers	Dnd41	blood
28	chr10:1913200-1913400	Enhancers	Fetal Intestine Large	intestine
29	chr10:1913800-1914000	Enhancers	Fetal Intestine Small	intestine
30	chr10:1915400-1917000	Enhancers	Fetal Intestine Large	intestine
31	chr10:1915800-1916600	Enhancers	Fetal Intestine Small	intestine
32	chr10:1916000-1917400	Enhancers	GM12878-XiMat	blood

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