Variant report

Variant	nsv520180
Chromosome Location	chr9:18187403-18193796
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	chr9:18189998..18192028-chr9:18194754..18196298,2	MCF-7	breast:

Extended variants
information (count: 273 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7031744	chr9:18187403-18187404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139110570	chr9:18187407-18187408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1411797	chr9:18187435-18187436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369121658	chr9:18187467-18187468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533569936	chr9:18187492-18187493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531032885	chr9:18187502-18187503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78010249	chr9:18187511-18187512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573839634	chr9:18187521-18187522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374790500	chr9:18187530-18187531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556321290	chr9:18187547-18187548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149872253	chr9:18187555-18187556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546306783	chr9:18187557-18187558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144917637	chr9:18187567-18187568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111947828	chr9:18187616-18187617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35278859	chr9:18187671-18187672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528621312	chr9:18187703-18187704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186118586	chr9:18187728-18187729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191138607	chr9:18187758-18187759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149004600	chr9:18187761-18187762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538475236	chr9:18187770-18187771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs67294529	chr9:18187787-18187788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534937570	chr9:18187799-18187800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7032289	chr9:18187805-18187806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs546744876	chr9:18187826-18187827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551039510	chr9:18187847-18187848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72701538	chr9:18187859-18187860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs558274376	chr9:18187871-18187872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533652346	chr9:18187964-18187965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554897377	chr9:18187984-18187985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116552572	chr9:18188054-18188055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538136395	chr9:18188081-18188082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12379398	chr9:18188093-18188094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556221374	chr9:18188115-18188116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6475201	chr9:18188186-18188187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs545198309	chr9:18188190-18188191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181591573	chr9:18188206-18188207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1944761	chr9:18188242-18188243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs550561080	chr9:18188256-18188257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186690259	chr9:18188272-18188273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369772505	chr9:18188351-18188352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576062156	chr9:18188356-18188357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529309230	chr9:18188367-18188368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569252038	chr9:18188381-18188382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147746369	chr9:18188451-18188452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142508901	chr9:18188461-18188462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190503336	chr9:18188473-18188474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551518837	chr9:18188488-18188489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112026656	chr9:18188513-18188514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372497278	chr9:18188522-18188523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183114077	chr9:18188555-18188556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18183200-18190800	Weak transcription	Aorta	Aorta
2	chr9:18184400-18188800	Weak transcription	Fetal Muscle Leg	muscle
3	chr9:18184800-18190200	Weak transcription	Fetal Lung	lung
4	chr9:18185400-18189600	Weak transcription	Fetal Heart	heart
5	chr9:18185400-18189800	Weak transcription	Hela-S3	cervix
6	chr9:18188400-18188600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr9:18188600-18189800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr9:18188800-18189200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:18188800-18189200	Enhancers	Fetal Muscle Leg	muscle
10	chr9:18189000-18189200	Enhancers	Pancreas	Pancrea
11	chr9:18189200-18190800	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:18189600-18190200	Enhancers	Stomach Smooth Muscle	stomach
13	chr9:18189600-18190800	Weak transcription	Pancreas	Pancrea
14	chr9:18189600-18191200	Enhancers	Fetal Heart	heart
15	chr9:18189800-18190000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr9:18189800-18190200	Enhancers	Adipose Nuclei	Adipose
17	chr9:18189800-18190200	Enhancers	Fetal Stomach	stomach
18	chr9:18189800-18190200	Enhancers	Hela-S3	cervix
19	chr9:18189800-18190400	Enhancers	Brain Germinal Matrix	brain
20	chr9:18189800-18191600	Enhancers	Liver	Liver
21	chr9:18190200-18190600	Enhancers	Brain Substantia Nigra	brain
22	chr9:18190200-18190600	Enhancers	Fetal Lung	lung
23	chr9:18190400-18190800	Enhancers	Brain Anterior Caudate	brain
24	chr9:18190400-18190800	Weak transcription	Brain Germinal Matrix	brain
25	chr9:18190800-18191200	Enhancers	Brain Germinal Matrix	brain
26	chr9:18190800-18191600	Enhancers	Aorta	Aorta
27	chr9:18190800-18191600	Enhancers	Fetal Muscle Leg	muscle
28	chr9:18190800-18191600	Enhancers	Pancreas	Pancrea
29	chr9:18191600-18196800	Weak transcription	Aorta	Aorta
30	chr9:18193200-18193400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr9:18193400-18194600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr9:18193400-18195000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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