Variant report

Variant	esv3337385
Chromosome Location	chr9:86696689-86697227
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	chr9:86693838..86695435-chr9:86695774..86698504,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RMI1-2	chr9:86696853-86696907	ENSG00000227463.1
2	lnc-RMI1-2	chr9:86696853-86696924	ENSG00000227463.2

Extended variants
information (count: 21 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10868094	chr9:86696749-86696750	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574847307	chr9:86696760-86696761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541810394	chr9:86696794-86696795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560158387	chr9:86696803-86696804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531937738	chr9:86696820-86696821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138857032	chr9:86696821-86696822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141344698	chr9:86696843-86696844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186118976	chr9:86696912-86696913	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs11140359	chr9:86696975-86696976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531502469	chr9:86697025-86697026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549710967	chr9:86697029-86697030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572859396	chr9:86697039-86697040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150831803	chr9:86697068-86697069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547396440	chr9:86697074-86697075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555377576	chr9:86697108-86697109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539458885	chr9:86697110-86697111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78739358	chr9:86697123-86697124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577471330	chr9:86697124-86697125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75576412	chr9:86697160-86697161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538397048	chr9:86697171-86697172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572162384	chr9:86697226-86697227	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86695800-86697800	Enhancers	Brain Germinal Matrix	brain
2	chr9:86696600-86698400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:86696800-86697200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:86697000-86697600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr9:86697200-86697600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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