Variant report

Variant	nsv892569
Chromosome Location	chr9:12446321-12522037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:12495478..12497603-chr9:12499554..12502350,2	MCF-7	breast:
2	chr9:12425929..12426463-chr9:12464660..12465379,2	MCF-7	breast:
3	chr9:12494239..12495105-chr9:12503977..12504835,2	MCF-7	breast:
4	chr8:43095234..43095797-chr9:12480274..12480774,2	MCF-7	breast:
5	chr9:12495478..12497603-chr9:12499554..12502350,2	MCF-7	breast:
6	chr9:12494239..12495105-chr9:12503977..12504835,2	MCF-7	breast:

Extended variants
information (count: 1460 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1460 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13294782	chr9:12446321-12446322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563584378	chr9:12446328-12446329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113493489	chr9:12446374-12446375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536568877	chr9:12447810-12447811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149621827	chr9:12447868-12447869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572512993	chr9:12447884-12447885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111262079	chr9:12447917-12447918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7019917	chr9:12447922-12447923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558261506	chr9:12447997-12447998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575341388	chr9:12448018-12448019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146117799	chr9:12448092-12448093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111773293	chr9:12448126-12448127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190161692	chr9:12448177-12448178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574658842	chr9:12448185-12448186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78210780	chr9:12448210-12448211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139885665	chr9:12448229-12448230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182272708	chr9:12448250-12448251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545096011	chr9:12448297-12448298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187363483	chr9:12448308-12448309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189889599	chr9:12448321-12448322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180837146	chr9:12448326-12448327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554300963	chr9:12448364-12448365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143262806	chr9:12448367-12448368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530189156	chr9:12448394-12448395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146198147	chr9:12448401-12448402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567198547	chr9:12448470-12448471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564988118	chr9:12448476-12448477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558561177	chr9:12448494-12448495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533324435	chr9:12448507-12448508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184912729	chr9:12448529-12448530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148404850	chr9:12448578-12448579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550353530	chr9:12448589-12448590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574695545	chr9:12448608-12448609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs540382190	chr9:12448696-12448697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs190157213	chr9:12448718-12448719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs10756372	chr9:12448743-12448744	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs28703621	chr9:12448798-12448799	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529634954	chr9:12448803-12448804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565301519	chr9:12448804-12448805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569531360	chr9:12448854-12448855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62538522	chr9:12448857-12448858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs544307351	chr9:12448859-12448860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560999158	chr9:12448869-12448870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530127403	chr9:12448901-12448902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142493298	chr9:12448917-12448918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10738281	chr9:12448950-12448951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs60146173	chr9:12448960-12448961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs370803833	chr9:12449018-12449019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35667291	chr9:12449025-12449026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372550152	chr9:12449034-12449035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Melanoma	18172304	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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12446200-12446400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:12447800-12448600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:12448600-12448800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr9:12448800-12449200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:12449600-12452200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:12456200-12456400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:12456400-12458800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:12456600-12457000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:12456600-12457200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:12457000-12460200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:12458800-12459000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:12459000-12460000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:12459600-12460200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:12459800-12460200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr9:12460000-12460400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:12460200-12460400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:12460200-12460400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr9:12460200-12460400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr9:12460200-12460600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:12460200-12462000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr9:12460200-12462400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr9:12460400-12461000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:12460400-12461400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr9:12460400-12461800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:12460400-12462200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:12460600-12461400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr9:12461000-12463800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:12461400-12461800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr9:12461400-12462400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr9:12461400-12462600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:12461400-12462600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:12461400-12462600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr9:12461600-12462400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr9:12461600-12465000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr9:12461800-12462200	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr9:12461800-12462400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:12461800-12462400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:12461800-12462600	Enhancers	Brain Germinal Matrix	brain
39	chr9:12462000-12462600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr9:12462000-12462600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr9:12462200-12462800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr9:12462200-12463000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr9:12462200-12463600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:12462400-12463600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr9:12462400-12463600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr9:12462400-12463800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr9:12462400-12466800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:12462600-12463600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr9:12462600-12463800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr9:12462600-12463800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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