Variant report

Variant	nsv1034518
Chromosome Location	chr9:18166899-18214878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:18016854..18017748-chr9:18207853..18208432,2	MCF-7	breast:
2	chr9:18149518..18150319-chr9:18207841..18208492,3	MCF-7	breast:
3	chr9:17811052..17811931-chr9:18212974..18213863,4	MCF-7	breast:
4	chr9:17810623..17811776-chr9:18207859..18208526,4	MCF-7	breast:
5	chr9:17528534..17529118-chr9:18207797..18208372,2	MCF-7	breast:
6	chr9:17810712..17811652-chr9:18207926..18208828,3	MCF-7	breast:
7	chr9:18211031..18213386-chr9:18220463..18223215,2	MCF-7	breast:
8	chr9:18189998..18192028-chr9:18194754..18196298,2	MCF-7	breast:
9	chr9:18189998..18192028-chr9:18194754..18196298,2	MCF-7	breast:
10	chr9:17531412..17532247-chr9:18212958..18213842,2	MCF-7	breast:

No data

Extended variants
information (count: 1324 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1324 , 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	rs12006002	chr9:18166899-18166900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528008340	chr9:18166921-18166922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10963486	chr9:18166934-18166935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559676494	chr9:18166942-18166943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10756944	chr9:18166943-18166944	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575745112	chr9:18166988-18166989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548574675	chr9:18167049-18167050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28550083	chr9:18167064-18167065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142636570	chr9:18167089-18167090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576805696	chr9:18167137-18167138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369143766	chr9:18167149-18167150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540956398	chr9:18167190-18167191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559730457	chr9:18167207-18167208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28562309	chr9:18167253-18167254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542056552	chr9:18167254-18167255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561332390	chr9:18167270-18167271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146915368	chr9:18167276-18167277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538009831	chr9:18167319-18167320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550279043	chr9:18167326-18167327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147960231	chr9:18167327-18167328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181231404	chr9:18167365-18167366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146443975	chr9:18182410-18182411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192210112	chr9:18182457-18182458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544743402	chr9:18182541-18182542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529031927	chr9:18182569-18182570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550331744	chr9:18182577-18182578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140944026	chr9:18182657-18182658	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374782293	chr9:18182672-18182673	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530863965	chr9:18182679-18182680	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552687222	chr9:18182689-18182690	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34297244	chr9:18182714-18182715	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183781301	chr9:18182715-18182716	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188517025	chr9:18182753-18182754	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553682863	chr9:18182755-18182756	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11789982	chr9:18182756-18182757	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs528052312	chr9:18182767-18182768	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536170138	chr9:18182777-18182778	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11789984	chr9:18182792-18182793	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs144594262	chr9:18182796-18182797	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138553049	chr9:18182810-18182811	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557874554	chr9:18182905-18182906	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572734664	chr9:18182941-18182942	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181405102	chr9:18182956-18182957	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375987291	chr9:18182989-18182990	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369707362	chr9:18182999-18183000	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565232482	chr9:18183018-18183019	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs114457102	chr9:18183023-18183024	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs141420722	chr9:18183036-18183037	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs34992178	chr9:18183055-18183056	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs150258390	chr9:18183066-18183067	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Chordoma	21215367	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18166600-18167400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr9:18182400-18185400	Enhancers	Fetal Intestine Large	intestine
3	chr9:18182400-18185600	Enhancers	Fetal Intestine Small	intestine
4	chr9:18182400-18185600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr9:18182600-18183000	Active TSS	Duodenum Mucosa	Duodenum
6	chr9:18182600-18183400	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr9:18182600-18185400	Enhancers	Fetal Heart	heart
8	chr9:18183000-18183200	Enhancers	Aorta	Aorta
9	chr9:18183000-18183200	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr9:18183000-18183200	Enhancers	Small Intestine	intestine
11	chr9:18183000-18183200	Enhancers	Stomach Mucosa	stomach
12	chr9:18183200-18184200	Weak transcription	Stomach Mucosa	stomach
13	chr9:18183200-18185600	Enhancers	Duodenum Mucosa	Duodenum
14	chr9:18183200-18190800	Weak transcription	Aorta	Aorta
15	chr9:18183400-18184400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr9:18184000-18184800	Enhancers	Fetal Lung	lung
17	chr9:18184200-18184400	Enhancers	Fetal Muscle Leg	muscle
18	chr9:18184200-18185600	Enhancers	Stomach Mucosa	stomach
19	chr9:18184400-18185200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr9:18184400-18188800	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:18184600-18185000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr9:18184600-18185400	Enhancers	Hela-S3	cervix
23	chr9:18184800-18185400	Enhancers	Small Intestine	intestine
24	chr9:18184800-18186200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr9:18184800-18190200	Weak transcription	Fetal Lung	lung
26	chr9:18185400-18189600	Weak transcription	Fetal Heart	heart
27	chr9:18185400-18189800	Weak transcription	Hela-S3	cervix
28	chr9:18187000-18187200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr9:18188400-18188600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr9:18188600-18189800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr9:18188800-18189200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:18188800-18189200	Enhancers	Fetal Muscle Leg	muscle
33	chr9:18189000-18189200	Enhancers	Pancreas	Pancrea
34	chr9:18189200-18190800	Weak transcription	Fetal Muscle Leg	muscle
35	chr9:18189600-18190200	Enhancers	Stomach Smooth Muscle	stomach
36	chr9:18189600-18190800	Weak transcription	Pancreas	Pancrea
37	chr9:18189600-18191200	Enhancers	Fetal Heart	heart
38	chr9:18189800-18190000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr9:18189800-18190200	Enhancers	Adipose Nuclei	Adipose
40	chr9:18189800-18190200	Enhancers	Fetal Stomach	stomach
41	chr9:18189800-18190200	Enhancers	Hela-S3	cervix
42	chr9:18189800-18190400	Enhancers	Brain Germinal Matrix	brain
43	chr9:18189800-18191600	Enhancers	Liver	Liver
44	chr9:18190200-18190600	Enhancers	Brain Substantia Nigra	brain
45	chr9:18190200-18190600	Enhancers	Fetal Lung	lung
46	chr9:18190400-18190800	Enhancers	Brain Anterior Caudate	brain
47	chr9:18190400-18190800	Weak transcription	Brain Germinal Matrix	brain
48	chr9:18190800-18191200	Enhancers	Brain Germinal Matrix	brain
49	chr9:18190800-18191600	Enhancers	Aorta	Aorta
50	chr9:18190800-18191600	Enhancers	Fetal Muscle Leg	muscle

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