Variant report

Variant	nsv1025139
Chromosome Location	chr9:1817851-1892815
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:1878195..1880083-chr9:1882039..1884162,2	MCF-7	breast:
2	chr9:1459863..1460538-chr9:1837555..1838175,2	MCF-7	breast:
3	chr9:1826492..1828147-chr9:1833415..1834960,2	MCF-7	breast:
4	chr9:1871691..1874129-chr9:1875284..1877172,2	K562	blood:
5	chr9:1821753..1823506-chr9:1830601..1832415,2	K562	blood:
6	chr9:1871691..1874129-chr9:1875284..1877172,2	K562	blood:
7	chr9:1821753..1823506-chr9:1830601..1832415,2	K562	blood:
8	chr9:1709079..1709791-chr9:1869643..1870482,2	MCF-7	breast:
9	chr9:1878195..1880083-chr9:1882039..1884162,2	MCF-7	breast:
10	chr9:1709062..1709904-chr9:1836847..1837727,2	MCF-7	breast:
11	chr9:1826492..1828147-chr9:1833415..1834960,2	MCF-7	breast:
12	chr9:1825429..1827121-chr9:1827524..1830353,2	K562	blood:
13	chr9:1825429..1827121-chr9:1827524..1830353,2	K562	blood:
14	chr9:1709091..1710013-chr9:1869550..1870469,3	MCF-7	breast:

No data

Extended variants
information (count: 2340 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2340 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539760331	chr9:1824417-1824418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576645373	chr9:1824455-1824456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78238780	chr9:1824475-1824476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142581529	chr9:1824480-1824481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572249307	chr9:1824493-1824494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541138970	chr9:1824506-1824507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553129027	chr9:1824523-1824524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116377992	chr9:1824546-1824547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112126599	chr9:1824551-1824552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147164020	chr9:1824564-1824565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572505376	chr9:1824571-1824572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565620832	chr9:1824602-1824603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190897697	chr9:1824608-1824609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576739208	chr9:1824609-1824610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182378946	chr9:1824616-1824617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531503132	chr9:1824621-1824622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140968760	chr9:1824633-1824634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564735854	chr9:1824656-1824657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550773612	chr9:1824679-1824680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527238474	chr9:1824702-1824703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547534770	chr9:1824704-1824705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114386884	chr9:1824716-1824717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536879859	chr9:1824720-1824721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550083258	chr9:1824726-1824727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144827564	chr9:1824793-1824794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187827190	chr9:1824794-1824795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559166934	chr9:1824830-1824831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1107206	chr9:1824864-1824865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147919598	chr9:1824885-1824886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17797701	chr9:1824888-1824889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs141875932	chr9:1824897-1824898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150054916	chr9:1824944-1824945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145211388	chr9:1824982-1824983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149135022	chr9:1824988-1824989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549090549	chr9:1825013-1825014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1107207	chr9:1825019-1825020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs565145251	chr9:1825031-1825032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372456599	chr9:1825034-1825035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74344253	chr9:1825041-1825042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143312338	chr9:1825056-1825057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560991741	chr9:1825098-1825099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17797707	chr9:1825129-1825130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs77645123	chr9:1825164-1825165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138866399	chr9:1825225-1825226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539179828	chr9:1825229-1825230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140571024	chr9:1825231-1825232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565999726	chr9:1825235-1825236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534731957	chr9:1825268-1825269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113709928	chr9:1825273-1825274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201380612	chr9:1825274-1825275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1824400-1825000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr9:1825000-1825400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr9:1825400-1825800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr9:1825600-1826000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:1832400-1833200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:1837000-1837800	Enhancers	Gastric	stomach
7	chr9:1837800-1838200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:1839400-1840000	Enhancers	Fetal Brain Female	brain
9	chr9:1839400-1841600	Enhancers	Fetal Brain Male	brain
10	chr9:1839400-1860400	Weak transcription	Adipose Nuclei	Adipose
11	chr9:1839600-1840600	Enhancers	Brain Germinal Matrix	brain
12	chr9:1841600-1845600	Weak transcription	Fetal Brain Male	brain
13	chr9:1844000-1858200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:1845600-1846000	Enhancers	Fetal Brain Male	brain
15	chr9:1845800-1846600	Enhancers	Fetal Brain Female	brain
16	chr9:1846000-1855800	Weak transcription	Fetal Brain Male	brain
17	chr9:1848400-1848600	Enhancers	Fetal Lung	lung
18	chr9:1848600-1849400	Weak transcription	Fetal Lung	lung
19	chr9:1849400-1850200	Enhancers	Fetal Lung	lung
20	chr9:1850000-1850400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr9:1850200-1851400	Weak transcription	Fetal Lung	lung
22	chr9:1851400-1851600	Enhancers	Fetal Lung	lung
23	chr9:1855800-1856200	Enhancers	Fetal Brain Male	brain
24	chr9:1856200-1857200	Weak transcription	Fetal Brain Male	brain
25	chr9:1857200-1857400	Enhancers	Fetal Brain Male	brain
26	chr9:1857400-1858000	Weak transcription	Fetal Brain Male	brain
27	chr9:1857600-1858000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:1858000-1858200	Enhancers	Fetal Brain Male	brain
29	chr9:1858000-1858400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:1860200-1862000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr9:1860600-1861800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr9:1861000-1862200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr9:1861200-1861600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr9:1869600-1870000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr9:1869800-1870000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr9:1869800-1870000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr9:1869800-1870000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr9:1869800-1870400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr9:1869800-1870400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr9:1869800-1872000	Enhancers	GM12878-XiMat	blood
41	chr9:1870000-1871800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr9:1870000-1872200	Enhancers	Brain Germinal Matrix	brain
43	chr9:1870400-1871600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr9:1870400-1871800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:1870400-1872000	Enhancers	Fetal Brain Male	brain
46	chr9:1870800-1871400	Enhancers	Psoas Muscle	Psoas
47	chr9:1870800-1871600	Enhancers	Fetal Brain Female	brain
48	chr9:1871000-1872200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr9:1871000-1872800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:1871200-1871400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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