Variant report

Variant	nsv892043
Chromosome Location	chr9:1777728-1872709
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

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

No data

Extended variants
information (count: 2169 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:2169 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7869846	chr9:1777728-1777729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531333164	chr9:1777742-1777743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371417059	chr9:1786628-1786629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530575442	chr9:1786636-1786637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186567981	chr9:1786677-1786678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7048135	chr9:1786681-1786682	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs189754091	chr9:1786724-1786725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546693230	chr9:1786725-1786726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528539118	chr9:1786735-1786736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74583657	chr9:1786750-1786751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182416947	chr9:1786792-1786793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556068882	chr9:1786809-1786810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569445895	chr9:1786829-1786830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563532052	chr9:1786838-1786839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12236808	chr9:1786859-1786860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368276332	chr9:1786865-1786866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573523310	chr9:1786871-1786872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577581086	chr9:1786902-1786903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116913509	chr9:1786906-1786907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553800549	chr9:1786923-1786924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572709350	chr9:1786929-1786930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145860711	chr9:1786969-1786970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562044657	chr9:1786986-1786987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148940474	chr9:1786988-1786989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544462238	chr9:1786996-1786997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564094918	chr9:1786999-1787000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532912049	chr9:1787021-1787022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376782797	chr9:1787022-1787023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546730217	chr9:1787034-1787035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143656381	chr9:1787065-1787066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148075550	chr9:1787096-1787097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549286202	chr9:1787109-1787110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4740649	chr9:1787114-1787115	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538169002	chr9:1787127-1787128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187041368	chr9:1787137-1787138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142866685	chr9:1787150-1787151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs55858939	chr9:1787184-1787185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375393775	chr9:1788802-1788803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559876881	chr9:1788831-1788832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75199638	chr9:1788838-1788839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199900380	chr9:1788841-1788842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567198551	chr9:1788846-1788847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547548587	chr9:1788854-1788855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372393358	chr9:1788868-1788869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181830289	chr9:1788871-1788872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549763797	chr9:1788878-1788879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186387337	chr9:1788882-1788883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561251237	chr9:1788916-1788917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558279414	chr9:1788919-1788920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571788634	chr9:1788923-1788924	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
early-passage human iPS cells	21368824	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1774800-1777800	Enhancers	H1 Cell Line	embryonic stem cell
2	chr9:1774800-1777800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr9:1775800-1777800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:1775800-1777800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:1775800-1777800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:1775800-1777800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr9:1777400-1777800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:1777600-1777800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:1786600-1787200	Enhancers	GM12878-XiMat	blood
10	chr9:1788800-1789200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:1791600-1791800	Enhancers	Fetal Brain Female	brain
12	chr9:1792000-1794000	Weak transcription	Fetal Brain Female	brain
13	chr9:1792000-1797400	Enhancers	Fetal Brain Male	brain
14	chr9:1793000-1793200	Enhancers	Brain Germinal Matrix	brain
15	chr9:1793200-1794800	Weak transcription	Brain Germinal Matrix	brain
16	chr9:1794000-1796800	Enhancers	Fetal Brain Female	brain
17	chr9:1794800-1795400	Enhancers	Brain Germinal Matrix	brain
18	chr9:1812800-1814600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:1824400-1825000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr9:1825000-1825400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr9:1825400-1825800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr9:1825600-1826000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:1832400-1833200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:1837000-1837800	Enhancers	Gastric	stomach
25	chr9:1837800-1838200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:1839400-1840000	Enhancers	Fetal Brain Female	brain
27	chr9:1839400-1841600	Enhancers	Fetal Brain Male	brain
28	chr9:1839400-1860400	Weak transcription	Adipose Nuclei	Adipose
29	chr9:1839600-1840600	Enhancers	Brain Germinal Matrix	brain
30	chr9:1841600-1845600	Weak transcription	Fetal Brain Male	brain
31	chr9:1844000-1858200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr9:1845600-1846000	Enhancers	Fetal Brain Male	brain
33	chr9:1845800-1846600	Enhancers	Fetal Brain Female	brain
34	chr9:1846000-1855800	Weak transcription	Fetal Brain Male	brain
35	chr9:1848400-1848600	Enhancers	Fetal Lung	lung
36	chr9:1848600-1849400	Weak transcription	Fetal Lung	lung
37	chr9:1849400-1850200	Enhancers	Fetal Lung	lung
38	chr9:1850000-1850400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr9:1850200-1851400	Weak transcription	Fetal Lung	lung
40	chr9:1851400-1851600	Enhancers	Fetal Lung	lung
41	chr9:1855800-1856200	Enhancers	Fetal Brain Male	brain
42	chr9:1856200-1857200	Weak transcription	Fetal Brain Male	brain
43	chr9:1857200-1857400	Enhancers	Fetal Brain Male	brain
44	chr9:1857400-1858000	Weak transcription	Fetal Brain Male	brain
45	chr9:1857600-1858000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr9:1858000-1858200	Enhancers	Fetal Brain Male	brain
47	chr9:1858000-1858400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:1860200-1862000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr9:1860600-1861800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr9:1861000-1862200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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