Variant report

Variant	nsv1025222
Chromosome Location	chr9:1497943-1518792
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	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:

Extended variants
information (count: 1343 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4741434	chr9:1497943-1497944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145039379	chr9:1497956-1497957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534051528	chr9:1497961-1497962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568379841	chr9:1497973-1497974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10810284	chr9:1497975-1497976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573553288	chr9:1497994-1497995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181670492	chr9:1498012-1498013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7019100	chr9:1498019-1498020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs186805374	chr9:1498039-1498040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189299569	chr9:1498041-1498042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181927879	chr9:1498050-1498051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527897210	chr9:1498059-1498060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541686064	chr9:1498112-1498113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561403564	chr9:1498122-1498123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530452268	chr9:1498142-1498143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186569464	chr9:1498167-1498168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189795019	chr9:1498208-1498209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577149484	chr9:1498209-1498210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182695173	chr9:1498214-1498215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532604953	chr9:1498251-1498252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552398308	chr9:1498253-1498254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571384807	chr9:1498267-1498268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539604506	chr9:1498316-1498317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112209221	chr9:1498325-1498326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553961116	chr9:1498374-1498375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186415187	chr9:1498413-1498414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77857665	chr9:1498414-1498415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115200498	chr9:1498419-1498420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191247239	chr9:1498430-1498431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541872881	chr9:1498478-1498479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561704446	chr9:1498481-1498482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535192460	chr9:1498482-1498483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538314372	chr9:1498486-1498487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34955750	chr9:1498505-1498506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573555019	chr9:1498522-1498523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572135680	chr9:1498539-1498540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541252346	chr9:1498549-1498550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62534836	chr9:1498558-1498559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs572326645	chr9:1498563-1498564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368713468	chr9:1498566-1498567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201188176	chr9:1498574-1498575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575206799	chr9:1498578-1498579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544131368	chr9:1498592-1498593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34306037	chr9:1498597-1498598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563634137	chr9:1498610-1498611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532564350	chr9:1498616-1498617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552610854	chr9:1498627-1498628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537808871	chr9:1498647-1498648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559571418	chr9:1498683-1498684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564433766	chr9:1498687-1498688	Weak transcription	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1491000-1504000	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1504000-1504800	Strong transcription	Adipose Nuclei	Adipose
3	chr9:1504800-1513800	Weak transcription	Adipose Nuclei	Adipose
4	chr9:1511000-1511200	Enhancers	NHEK	skin
5	chr9:1512600-1513000	Enhancers	Fetal Muscle Leg	muscle
6	chr9:1512800-1514200	Enhancers	NHEK	skin
7	chr9:1513000-1513400	Weak transcription	Fetal Muscle Leg	muscle
8	chr9:1513000-1513800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:1513200-1514000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:1513400-1514800	Enhancers	Fetal Muscle Leg	muscle
11	chr9:1513800-1514600	Enhancers	Adipose Nuclei	Adipose
12	chr9:1514000-1514800	Enhancers	Psoas Muscle	Psoas
13	chr9:1514400-1515000	Enhancers	Fetal Stomach	stomach
14	chr9:1514400-1515800	Enhancers	GM12878-XiMat	blood
15	chr9:1514600-1522600	Weak transcription	Adipose Nuclei	Adipose
16	chr9:1514800-1521600	Weak transcription	Fetal Muscle Leg	muscle
17	chr9:1515000-1515600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr9:1515600-1516000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr9:1515600-1516000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:1515600-1516000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:1515800-1516200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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