Variant report

Variant	esv18743
Chromosome Location	chr9:10059703-10060468
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	chr9:10060352..10060896-chr9:10268535..10269397,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs390131	chr9:10059727-10059728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150468362	chr9:10059745-10059746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs137931265	chr9:10059756-10059757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568600985	chr9:10059764-10059765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185326542	chr9:10059779-10059780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58252049	chr9:10059785-10059786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs414987	chr9:10059807-10059808	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571150383	chr9:10059846-10059847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567642885	chr9:10059878-10059879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372399705	chr9:10059910-10059911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142492132	chr9:10059937-10059938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558505037	chr9:10059982-10059983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56873056	chr9:10059988-10059989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76173467	chr9:10060002-10060003	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs554476004	chr9:10060005-10060006	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs376992031	chr9:10060032-10060033	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs419387	chr9:10060049-10060050	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553206917	chr9:10060050-10060051	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190203347	chr9:10060052-10060053	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs182598822	chr9:10060056-10060057	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs562870685	chr9:10060071-10060072	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs373809334	chr9:10060081-10060082	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs573212793	chr9:10060110-10060111	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs1631927	chr9:10060192-10060193	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10809025	chr9:10060197-10060198	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs527931685	chr9:10060202-10060203	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs547995658	chr9:10060213-10060214	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs145933141	chr9:10060235-10060236	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs533649531	chr9:10060236-10060237	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs1778517	chr9:10060266-10060267	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs12685620	chr9:10060269-10060270	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs537546787	chr9:10060274-10060275	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs138514641	chr9:10060304-10060305	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs116913280	chr9:10060313-10060314	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs1704030	chr9:10060351-10060352	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1704031	chr9:10060364-10060365	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576747218	chr9:10060367-10060368	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs185930861	chr9:10060387-10060388	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs556288656	chr9:10060401-10060402	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs1778516	chr9:10060413-10060414	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:112)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	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
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10056200-10060200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:10058000-10064200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:10058400-10059800	Enhancers	NHEK	skin
4	chr9:10058400-10060400	Enhancers	HMEC	breast
5	chr9:10058600-10060200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:10059000-10060200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:10059400-10059800	Weak transcription	Fetal Heart	heart
8	chr9:10059400-10062400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:10059600-10060000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr9:10059600-10062400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:10059600-10062800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:10059800-10060200	Weak transcription	NHEK	skin
13	chr9:10059800-10061600	Enhancers	Fetal Heart	heart
14	chr9:10060000-10060200	Enhancers	Brain Anterior Caudate	brain
15	chr9:10060000-10060600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr9:10060200-10060400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:10060200-10060400	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr9:10060200-10060400	Enhancers	NHEK	skin
19	chr9:10060200-10062400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:10060200-10062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:10060200-10063000	Enhancers	HUVEC	blood vessel
22	chr9:10060400-10060600	Active TSS	Brain Anterior Caudate	brain
23	chr9:10060400-10062400	Weak transcription	HMEC	breast
24	chr9:10060400-10062400	Weak transcription	NHEK	skin

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