Variant report

Variant	nsv539924
Chromosome Location	chr9:1829999-1869949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 1376 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1376 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372708901	chr9:1832427-1832428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556459247	chr9:1832435-1832436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576138240	chr9:1832445-1832446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143036360	chr9:1832448-1832449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564875627	chr9:1832460-1832461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113395746	chr9:1832471-1832472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7858362	chr9:1832481-1832482	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183519505	chr9:1832482-1832483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562931157	chr9:1832493-1832494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530204695	chr9:1832512-1832513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115879710	chr9:1832513-1832514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188859434	chr9:1832557-1832558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532400896	chr9:1832562-1832563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552151436	chr9:1832589-1832590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10963533	chr9:1832590-1832591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs535130939	chr9:1832622-1832623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148366550	chr9:1832633-1832634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567466469	chr9:1832643-1832644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193105260	chr9:1832653-1832654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183421396	chr9:1832664-1832665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576399314	chr9:1832692-1832693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538677080	chr9:1832701-1832702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558532561	chr9:1832706-1832707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186636967	chr9:1832715-1832716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116957709	chr9:1832739-1832740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374572876	chr9:1832741-1832742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142250612	chr9:1832753-1832754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536104726	chr9:1832817-1832818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574727180	chr9:1832891-1832892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146407383	chr9:1832895-1832896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191389099	chr9:1832904-1832905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568072996	chr9:1832908-1832909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138405515	chr9:1832952-1832953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142991218	chr9:1833009-1833010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183917914	chr9:1833022-1833023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150635062	chr9:1833023-1833024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368510004	chr9:1833034-1833035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548694432	chr9:1833051-1833052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568438660	chr9:1833076-1833077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7861200	chr9:1833110-1833111	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
41	rs549989833	chr9:1833130-1833131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139796653	chr9:1833150-1833151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62534165	chr9:1833164-1833165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553563864	chr9:1833198-1833199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12350409	chr9:1837004-1837005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs11789914	chr9:1837005-1837006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12337743	chr9:1837057-1837058	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184862921	chr9:1837068-1837069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75525649	chr9:1837075-1837076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566024239	chr9:1837102-1837103	Enhancers	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:36 , 50 per page) page: 1

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

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