Variant report

Variant	nsv613077
Chromosome Location	chr9:1731076-1759811
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1054 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1054 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10962915	chr9:1731076-1731077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190206513	chr9:1731079-1731080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554337365	chr9:1731084-1731085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182824056	chr9:1731092-1731093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545461290	chr9:1731094-1731095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536905182	chr9:1731095-1731096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188714528	chr9:1731103-1731104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191863609	chr9:1731108-1731109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545467769	chr9:1731118-1731119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184058463	chr9:1731135-1731136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533513162	chr9:1731143-1731144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187456002	chr9:1731179-1731180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542448333	chr9:1731187-1731188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs36078881	chr9:1731200-1731201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559038797	chr9:1731203-1731204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562226098	chr9:1731234-1731235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531249773	chr9:1731249-1731250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538749	chr9:1731261-1731262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544927540	chr9:1731262-1731263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533395164	chr9:1731268-1731269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561515957	chr9:1731276-1731277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191390156	chr9:1731282-1731283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369655371	chr9:1731287-1731288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566998832	chr9:1731332-1731333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529301369	chr9:1731360-1731361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183961519	chr9:1731361-1731362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187108296	chr9:1731379-1731380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148850166	chr9:1731406-1731407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191836982	chr9:1731429-1731430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185064489	chr9:1731437-1731438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570646683	chr9:1731480-1731481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373092800	chr9:1731539-1731540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539465961	chr9:1731542-1731543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552647716	chr9:1731544-1731545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572986304	chr9:1731557-1731558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7870721	chr9:1731558-1731559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs56793343	chr9:1731569-1731570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369826343	chr9:1731574-1731575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190257162	chr9:1731588-1731589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs489306	chr9:1731602-1731603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564838764	chr9:1731616-1731617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535086	chr9:1731644-1731645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs489463	chr9:1731665-1731666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571261330	chr9:1731719-1731720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560723009	chr9:1731721-1731722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146945482	chr9:1731733-1731734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540621777	chr9:1731752-1731753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193023896	chr9:1731793-1731794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138483051	chr9:1731819-1731820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549036435	chr9:1731822-1731823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1718000-1736800	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1736800-1737000	Enhancers	Adipose Nuclei	Adipose
3	chr9:1737000-1738200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:1738000-1738200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:1738200-1738400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:1738200-1738800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:1738400-1738600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:1738600-1739400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:1739400-1739600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:1739600-1740200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:1740200-1740400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:1740400-1741600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:1742000-1742600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:1742600-1745200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:1743600-1744200	Enhancers	Fetal Brain Female	brain
16	chr9:1744000-1744400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:1747600-1748000	ZNF genes & repeats	GM12878-XiMat	blood
18	chr9:1748000-1748400	Enhancers	GM12878-XiMat	blood
19	chr9:1757200-1757800	Enhancers	Fetal Muscle Leg	muscle
20	chr9:1757800-1759200	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:1758600-1758800	ZNF genes & repeats	GM12878-XiMat	blood
22	chr9:1758800-1759000	Flanking Active TSS	GM12878-XiMat	blood
23	chr9:1759000-1759400	Enhancers	Ovary	ovary
24	chr9:1759000-1759800	Active TSS	GM12878-XiMat	blood
25	chr9:1759200-1759400	Enhancers	Fetal Muscle Trunk	muscle
26	chr9:1759200-1760000	Enhancers	Fetal Muscle Leg	muscle
27	chr9:1759200-1760400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr9:1759200-1760400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr9:1759400-1760000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr9:1759600-1760200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:1759800-1760400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr9:1759800-1760600	Flanking Active TSS	GM12878-XiMat	blood

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