Variant report

Variant	nsv892678
Chromosome Location	chr9:18033944-18082567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:200018379..200019256-chr9:18037438..18038367,2	MCF-7	breast:

Extended variants
information (count: 2332 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2332 , 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	rs10810890	chr9:18033944-18033945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542268667	chr9:18033957-18033958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563977367	chr9:18033983-18033984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575867070	chr9:18034006-18034007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111789097	chr9:18034036-18034037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183229892	chr9:18034043-18034044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188110327	chr9:18034052-18034053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546281808	chr9:18034053-18034054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372790722	chr9:18034069-18034070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561480359	chr9:18034127-18034128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528837749	chr9:18034200-18034201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576615636	chr9:18034203-18034204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116193609	chr9:18034229-18034230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550320437	chr9:18034258-18034259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569092938	chr9:18034259-18034260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539353873	chr9:18034261-18034262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10756924	chr9:18034266-18034267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs566660425	chr9:18034276-18034277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367771797	chr9:18034278-18034279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372621273	chr9:18034284-18034285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193069457	chr9:18034311-18034312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575005747	chr9:18034319-18034320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535817149	chr9:18034349-18034350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79485387	chr9:18034492-18034493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377254595	chr9:18034521-18034522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184429628	chr9:18034596-18034597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564840569	chr9:18034598-18034599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573087100	chr9:18034599-18034600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540454416	chr9:18034628-18034629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561418834	chr9:18034655-18034656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146903087	chr9:18034687-18034688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138923743	chr9:18034693-18034694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562340571	chr9:18034698-18034699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149432341	chr9:18034708-18034709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189135999	chr9:18034710-18034711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192383220	chr9:18034795-18034796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556165661	chr9:18034796-18034797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534235008	chr9:18034802-18034803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184937624	chr9:18034818-18034819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369629773	chr9:18034820-18034821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189453293	chr9:18034822-18034823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143750329	chr9:18034844-18034845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564816790	chr9:18034851-18034852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148145162	chr9:18034852-18034853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181042631	chr9:18034854-18034855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186457690	chr9:18034861-18034862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545110408	chr9:18034895-18034896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368214543	chr9:18034914-18034915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189450816	chr9:18034973-18034974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558146626	chr9:18035003-18035004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Chronic lymphocytic leukemia	21546498	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
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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18022400-18036000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:18032200-18039600	Weak transcription	Fetal Brain Male	brain
3	chr9:18032800-18035400	Weak transcription	Aorta	Aorta
4	chr9:18035400-18036400	Enhancers	Aorta	Aorta
5	chr9:18036000-18036200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:18036000-18036400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:18036000-18036400	Enhancers	Gastric	stomach
8	chr9:18036000-18036600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:18036000-18037000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:18036000-18037800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr9:18036000-18038000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr9:18036200-18036600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:18036200-18037200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr9:18036200-18037400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr9:18036200-18037400	Enhancers	Hela-S3	cervix
16	chr9:18036200-18037800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr9:18036200-18038400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:18036400-18036600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:18036400-18036800	Weak transcription	Aorta	Aorta
20	chr9:18036400-18037200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:18036400-18037800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr9:18036600-18036800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:18036600-18037000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr9:18036600-18037400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:18036600-18037400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:18036800-18037000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr9:18036800-18037000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:18036800-18037000	Enhancers	Aorta	Aorta
29	chr9:18037000-18037200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:18037000-18037200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr9:18037000-18037400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr9:18037000-18038000	Weak transcription	Aorta	Aorta
33	chr9:18037200-18037600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr9:18037200-18038000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:18037400-18037600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr9:18037400-18038600	Weak transcription	Hela-S3	cervix
37	chr9:18038000-18038200	Genic enhancers	Aorta	Aorta
38	chr9:18038000-18038800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:18038000-18039000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:18038200-18038400	Enhancers	Aorta	Aorta
41	chr9:18038400-18061600	Weak transcription	Aorta	Aorta
42	chr9:18038600-18039000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:18038600-18039000	Enhancers	Hela-S3	cervix
44	chr9:18040000-18040200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:18040400-18040800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:18044600-18046600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:18044800-18045000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:18045200-18046400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:18052000-18052200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:18052000-18052400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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