Variant report

Variant	esv2757319
Chromosome Location	chr9:16063191-16082467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:16074686..16077163-chr9:16077255..16078933,2	MCF-7	breast:
2	chr9:16064268..16067195-chr9:16080044..16082356,2	MCF-7	breast:
3	chr9:16064268..16067195-chr9:16080044..16082356,2	MCF-7	breast:
4	chr9:16063712..16066364-chr9:16092575..16094646,2	MCF-7	breast:
5	chr9:16080117..16082951-chr9:16084939..16087066,2	K562	blood:
6	chr9:16074686..16077163-chr9:16077255..16078933,2	MCF-7	breast:
7	chr9:16080126..16081905-chr9:16084168..16087016,2	MCF-7	breast:

Extended variants
information (count: 712 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:712 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9298745	chr9:16063191-16063192	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186270195	chr9:16063195-16063196	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs554354365	chr9:16063197-16063198	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs544651241	chr9:16063208-16063209	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs572515462	chr9:16063229-16063230	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189166334	chr9:16063230-16063231	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555153763	chr9:16063234-16063235	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564491375	chr9:16063238-16063239	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs573341929	chr9:16063255-16063256	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs543801638	chr9:16063281-16063282	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs555690819	chr9:16063323-16063324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs150512067	chr9:16063354-16063355	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs544938206	chr9:16063370-16063371	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs79561897	chr9:16063381-16063382	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs201621910	chr9:16063399-16063400	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs527475435	chr9:16063404-16063405	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs368376452	chr9:16063427-16063428	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs115267547	chr9:16063467-16063468	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561360758	chr9:16063510-16063511	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs73645251	chr9:16063516-16063517	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs371266198	chr9:16063517-16063518	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs112517688	chr9:16063533-16063534	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs185849355	chr9:16063536-16063537	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs375163836	chr9:16063555-16063556	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs533451487	chr9:16063612-16063613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571629039	chr9:16063621-16063622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532857579	chr9:16063623-16063624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151035238	chr9:16063682-16063683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs36025249	chr9:16063683-16063684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35785329	chr9:16063686-16063687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs397797363	chr9:16063687-16063688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547749666	chr9:16063716-16063717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191529837	chr9:16063732-16063733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182913945	chr9:16063752-16063753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186359677	chr9:16063773-16063774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12339530	chr9:16063774-16063775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529528198	chr9:16063820-16063821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11789332	chr9:16063831-16063832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12339502	chr9:16063841-16063842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs59457389	chr9:16063863-16063864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190854625	chr9:16063867-16063868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553768877	chr9:16063872-16063873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572246669	chr9:16063927-16063928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551808547	chr9:16063931-16063932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542454209	chr9:16064021-16064022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141687389	chr9:16064046-16064047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368899305	chr9:16064052-16064053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571635369	chr9:16064064-16064065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531854082	chr9:16064076-16064077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543903444	chr9:16064135-16064136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	19835627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16048600-16071400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:16049600-16063800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:16058600-16065200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:16058600-16069400	Weak transcription	Fetal Lung	lung
5	chr9:16058600-16069600	Weak transcription	NHLF	lung
6	chr9:16058800-16066000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:16060800-16063400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:16060800-16065000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:16060800-16065600	Enhancers	HMEC	breast
10	chr9:16061200-16063600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:16061200-16064000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:16062200-16063800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:16062200-16065000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:16062200-16065000	Enhancers	NH-A	brain
15	chr9:16062400-16063400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:16062400-16064200	Enhancers	Hela-S3	cervix
17	chr9:16062600-16063600	Flanking Active TSS	A549	lung
18	chr9:16062600-16064200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:16062800-16063600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:16062800-16063600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr9:16062800-16063600	Flanking Active TSS	Osteobl	bone
22	chr9:16062800-16063800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:16063000-16063200	Enhancers	NHEK	skin
24	chr9:16063000-16063400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:16063000-16063400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:16063000-16063600	Enhancers	HSMM	muscle
27	chr9:16063200-16063400	Flanking Active TSS	NHEK	skin
28	chr9:16063400-16064600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:16063400-16064600	Enhancers	NHEK	skin
30	chr9:16063400-16065600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:16063600-16063800	Enhancers	Osteobl	bone
32	chr9:16063600-16064000	Enhancers	A549	lung
33	chr9:16063600-16064200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr9:16063600-16064600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:16063800-16064600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:16063800-16069000	Weak transcription	Osteobl	bone
37	chr9:16063800-16069200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:16064000-16065400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:16064200-16065200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:16064200-16066000	Weak transcription	Hela-S3	cervix
41	chr9:16064200-16069000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr9:16064600-16065400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:16065000-16065200	Weak transcription	NH-A	brain
44	chr9:16065000-16065600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:16065200-16065600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:16065200-16065600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:16065200-16065600	Enhancers	NH-A	brain
48	chr9:16065400-16065600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:16065400-16065600	Enhancers	Fetal Heart	heart
50	chr9:16065400-16069400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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