Variant report

Variant	nsv518001
Chromosome Location	chr9:18383380-18408771
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	chr10:103812339..103814566-chr9:18385028..18387430,2	MCF-7	breast:

Extended variants
information (count: 1100 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1100 , 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	rs9407902	chr9:18383380-18383381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544137212	chr9:18383381-18383382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559340832	chr9:18383402-18383403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368598950	chr9:18383441-18383442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372933012	chr9:18383579-18383580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10756960	chr9:18383606-18383607	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76560347	chr9:18383634-18383635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541479920	chr9:18383656-18383657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138626559	chr9:18383724-18383725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149272470	chr9:18383778-18383779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56790980	chr9:18383789-18383790	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570680565	chr9:18383801-18383802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536091449	chr9:18383815-18383816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10511651	chr9:18383853-18383854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546255147	chr9:18383875-18383876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2226018	chr9:18383878-18383879	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs536915994	chr9:18383893-18383894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143425429	chr9:18383894-18383895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147986823	chr9:18383900-18383901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141563633	chr9:18383919-18383920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570154204	chr9:18383933-18383934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147544994	chr9:18383968-18383969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140072976	chr9:18383989-18383990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577483848	chr9:18384009-18384010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144039335	chr9:18384020-18384021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553295665	chr9:18384074-18384075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372502489	chr9:18384089-18384090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77702125	chr9:18384098-18384099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186526109	chr9:18384117-18384118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147299307	chr9:18384130-18384131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550693599	chr9:18384134-18384135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377446899	chr9:18384135-18384136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530497348	chr9:18384144-18384145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139732872	chr9:18384172-18384173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539597987	chr9:18384214-18384215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539241890	chr9:18384271-18384272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528395530	chr9:18384281-18384282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191343898	chr9:18384283-18384284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377411019	chr9:18384292-18384293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553539548	chr9:18384294-18384295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149802192	chr9:18384319-18384320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550774493	chr9:18384406-18384407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75598186	chr9:18384458-18384459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537509665	chr9:18384491-18384492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557626155	chr9:18384509-18384510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144664291	chr9:18384515-18384516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116822231	chr9:18384591-18384592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148515926	chr9:18384634-18384635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144142908	chr9:18384648-18384649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575030973	chr9:18384657-18384658	Enhancers Weak transcription	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18379600-18384000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:18379600-18392400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:18379800-18385200	Weak transcription	HSMM	muscle
4	chr9:18380200-18385000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr9:18380400-18385000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:18381000-18390200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:18382800-18384800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:18382800-18384800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:18382800-18384800	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:18382800-18386000	Weak transcription	Aorta	Aorta
11	chr9:18383000-18384800	Weak transcription	Osteobl	bone
12	chr9:18383200-18384800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:18383200-18385200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:18383200-18386800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:18383400-18385800	Enhancers	NHDF-Ad	bronchial
16	chr9:18384000-18384400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:18384400-18385200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:18384600-18385400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr9:18384800-18385400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:18384800-18386000	Enhancers	Osteobl	bone
21	chr9:18384800-18386400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:18384800-18386600	Enhancers	Colon Smooth Muscle	Colon
23	chr9:18384800-18386800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:18385000-18386000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr9:18385000-18386600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:18385200-18386000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:18385200-18386400	Enhancers	HSMM	muscle
28	chr9:18385400-18390400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr9:18385600-18386200	Enhancers	HUVEC	blood vessel
30	chr9:18385800-18386400	Enhancers	Ovary	ovary
31	chr9:18385800-18386400	Flanking Active TSS	NHDF-Ad	bronchial
32	chr9:18385800-18386400	Enhancers	NHLF	lung
33	chr9:18386000-18386200	Active TSS	Aorta	Aorta
34	chr9:18386000-18386400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr9:18386000-18386400	Flanking Active TSS	Osteobl	bone
36	chr9:18386000-18390200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:18386200-18386400	Flanking Active TSS	Aorta	Aorta
38	chr9:18386400-18386800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr9:18386400-18386800	Enhancers	NHDF-Ad	bronchial
40	chr9:18386400-18390400	Weak transcription	Ovary	ovary
41	chr9:18386400-18392800	Weak transcription	HSMM	muscle
42	chr9:18386400-18393600	Weak transcription	Aorta	Aorta
43	chr9:18386600-18390600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:18386800-18390200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:18386800-18390200	Weak transcription	NHDF-Ad	bronchial
46	chr9:18386800-18390400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr9:18388400-18388600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr9:18388400-18388600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr9:18388600-18390200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr9:18388600-18393400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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