Variant report

Variant	nsv1040241
Chromosome Location	chr10:1888940-2021748
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:1892660..1894538-chr10:1897061..1899093,2	K562	blood:
2	chr10:1910694..1913328-chr10:1934835..1936567,2	MCF-7	breast:
3	chr10:1910694..1913328-chr10:1934835..1936567,2	MCF-7	breast:
4	chr10:1939990..1942897-chr10:2131855..2134296,2	K562	blood:
5	chr10:2012536..2015084-chr10:2016782..2018463,2	K562	blood:
6	chr10:1892660..1894538-chr10:1897061..1899093,2	K562	blood:
7	chr10:2012536..2015084-chr10:2016782..2018463,2	K562	blood:
8	chr10:1886106..1888077-chr10:1890790..1892501,2	K562	blood:
9	chr10:2016251..2018453-chr10:2018949..2021607,2	K562	blood:
10	chr10:2016251..2018453-chr10:2018949..2021607,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADARB2-9	chr10:2009321-2009510	NONHSAT010938
2	lnc-ADARB2-9	chr10:2012857-2013330	NONHSAT010938

No data

Extended variants
information (count: 4262 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:4262 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11250823	chr10:1888940-1888941	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182065747	chr10:1888943-1888944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142112485	chr10:1888945-1888946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552031984	chr10:1888947-1888948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554552494	chr10:1888962-1888963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117470090	chr10:1888968-1888969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537458698	chr10:1889029-1889030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530591292	chr10:1889049-1889050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369211572	chr10:1889059-1889060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373037284	chr10:1889082-1889083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554398729	chr10:1889090-1889091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7920389	chr10:1889118-1889119	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs370869430	chr10:1889133-1889134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553917027	chr10:1889152-1889153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576993494	chr10:1889183-1889184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553245912	chr10:1889190-1889191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117294752	chr10:1889191-1889192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150755847	chr10:1889213-1889214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575661578	chr10:1889274-1889275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544638626	chr10:1889309-1889310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12572594	chr10:1889331-1889332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530399905	chr10:1889384-1889385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540596050	chr10:1889393-1889394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558847063	chr10:1889396-1889397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532635212	chr10:1889452-1889453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139647153	chr10:1889573-1889574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568865460	chr10:1889580-1889581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145259259	chr10:1889598-1889599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72768857	chr10:1889617-1889618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7893202	chr10:1889627-1889628	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs533815220	chr10:1889689-1889690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186121610	chr10:1889696-1889697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570584200	chr10:1889704-1889705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539259597	chr10:1889706-1889707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367749671	chr10:1889730-1889731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575823810	chr10:1889733-1889734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7921178	chr10:1889787-1889788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs554977341	chr10:1889820-1889821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190922875	chr10:1889828-1889829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182049954	chr10:1889838-1889839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147620273	chr10:1889842-1889843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142235368	chr10:1889846-1889847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560633261	chr10:1889861-1889862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149747231	chr10:1889865-1889866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6560774	chr10:1889887-1889888	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562209536	chr10:1889898-1889899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531294124	chr10:1889911-1889912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145144977	chr10:1889920-1889921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567717348	chr10:1889971-1889972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6560775	chr10:1889977-1889978	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1887800-1890000	Enhancers	Fetal Brain Male	brain
2	chr10:1889600-1890000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:1890000-1895200	Weak transcription	Fetal Brain Male	brain
4	chr10:1890000-1895400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:1893400-1894000	Enhancers	Hela-S3	cervix
6	chr10:1895200-1895800	Enhancers	Fetal Brain Male	brain
7	chr10:1895400-1895600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:1895600-1912800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:1895800-1897800	Weak transcription	Fetal Brain Male	brain
10	chr10:1897200-1899400	Enhancers	Brain Germinal Matrix	brain
11	chr10:1897800-1898000	Enhancers	Fetal Brain Male	brain
12	chr10:1898000-1898400	Weak transcription	Fetal Brain Male	brain
13	chr10:1898400-1898800	Enhancers	Fetal Brain Male	brain
14	chr10:1899400-1900000	Weak transcription	Brain Germinal Matrix	brain
15	chr10:1899600-1900000	Enhancers	Hela-S3	cervix
16	chr10:1900000-1900200	Enhancers	Brain Germinal Matrix	brain
17	chr10:1900200-1900600	Enhancers	Hela-S3	cervix
18	chr10:1900400-1901000	Enhancers	Gastric	stomach
19	chr10:1900400-1901200	Enhancers	Dnd41	blood
20	chr10:1913200-1913400	Enhancers	Fetal Intestine Large	intestine
21	chr10:1913800-1914000	Enhancers	Fetal Intestine Small	intestine
22	chr10:1915400-1917000	Enhancers	Fetal Intestine Large	intestine
23	chr10:1915800-1916600	Enhancers	Fetal Intestine Small	intestine
24	chr10:1916000-1917400	Enhancers	GM12878-XiMat	blood
25	chr10:1921400-1921800	Enhancers	Hela-S3	cervix
26	chr10:1921800-1925000	Weak transcription	Hela-S3	cervix
27	chr10:1922800-1923200	Enhancers	Dnd41	blood
28	chr10:1923400-1926200	Enhancers	Fetal Intestine Large	intestine
29	chr10:1924000-1924400	Enhancers	Pancreas	Pancrea
30	chr10:1925000-1925400	Enhancers	Hela-S3	cervix
31	chr10:1926000-1926800	Enhancers	Fetal Brain Male	brain
32	chr10:1937200-1937600	Active TSS	Fetal Lung	lung
33	chr10:1937600-1938400	Weak transcription	Fetal Lung	lung
34	chr10:1938400-1938800	Enhancers	Fetal Lung	lung
35	chr10:1939200-1940800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr10:1939400-1939600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr10:1939400-1939800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:1939400-1940800	Enhancers	Primary T cells from cord blood	blood
39	chr10:1939800-1940400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr10:1940000-1940600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr10:1940400-1940800	Enhancers	Primary T cells fromperipheralblood	blood
42	chr10:1951000-1951400	Enhancers	Pancreas	Pancrea
43	chr10:1963000-1963400	Enhancers	Fetal Lung	lung
44	chr10:1964800-1966000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr10:1965000-1965800	Enhancers	Hela-S3	cervix
46	chr10:1965400-1965800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr10:1965400-1966200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:1965400-1966200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr10:1965400-1966400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr10:1965400-1966400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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