Variant report

Variant	esv3520315
Chromosome Location	chr9:93682783-93683338
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:93681178..93683556-chr9:93684318..93687198,2	MCF-7	breast:
2	chr9:93677459..93679335-chr9:93682010..93683558,2	MCF-7	breast:
3	chr9:93682204..93686521-chr9:93708730..93712212,6	MCF-7	breast:
4	chr9:93683300..93685317-chr9:93705427..93707006,2	MCF-7	breast:
5	chr9:93675751..93682846-chr9:94184185..94190004,10	MCF-7	breast:
6	chr9:93680322..93682785-chr9:93726933..93729227,2	MCF-7	breast:
7	chr9:93682025..93684983-chr9:93787806..93789762,2	MCF-7	breast:
8	chr9:93683207..93685388-chr9:94184914..94187994,3	MCF-7	breast:
9	chr9:93681274..93683060-chr9:93714729..93717613,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIRAS2-3	chr9:93683283-93683343	XLOC_007771
2	lnc-DIRAS2-3	chr9:93682784-93682927	XLOC_007771

No data

Variant related genes	Relation type
ENSG00000228216	chromatin interactions
ENSG00000165030	chromatin interactions
ENSG00000233081	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558388783	chr9:93682797-93682798	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs140978960	chr9:93682800-93682801	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs371757932	chr9:93682810-93682811	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs142453496	chr9:93682829-93682830	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs575514160	chr9:93682840-93682841	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs573980582	chr9:93682864-93682865	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs555491984	chr9:93682886-93682887	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs143515594	chr9:93682912-93682913	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs56930281	chr9:93682913-93682914	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs144378878	chr9:93682916-93682917	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs397830966	chr9:93682917-93682918	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs564044497	chr9:93682973-93682974	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543030686	chr9:93682989-93682990	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs291757	chr9:93682997-93682998	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546358671	chr9:93683046-93683047	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs544899978	chr9:93683075-93683076	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs111066143	chr9:93683087-93683088	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs575377390	chr9:93683185-93683186	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs544197682	chr9:93683197-93683198	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs544001659	chr9:93683261-93683262	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200799570	chr9:93683303-93683304	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs200806796	chr9:93683312-93683313	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93658800-93683400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:93678600-93683200	Weak transcription	Liver	Liver
3	chr9:93681400-93683400	Enhancers	Aorta	Aorta
4	chr9:93681400-93686800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:93681400-93687200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr9:93681600-93683000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr9:93681600-93683800	Enhancers	Right Atrium	heart
8	chr9:93681600-93684000	Enhancers	Esophagus	oesophagus
9	chr9:93681800-93683000	Enhancers	Right Ventricle	heart
10	chr9:93682200-93682800	Enhancers	Fetal Brain Male	brain
11	chr9:93682200-93682800	Enhancers	Fetal Heart	heart
12	chr9:93682200-93683400	Enhancers	Brain Germinal Matrix	brain
13	chr9:93682200-93684000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:93682200-93684000	Enhancers	Fetal Stomach	stomach
15	chr9:93682200-93684200	Enhancers	Adipose Nuclei	Adipose
16	chr9:93682400-93683200	Enhancers	Brain Substantia Nigra	brain
17	chr9:93682400-93683200	Enhancers	HMEC	breast
18	chr9:93682400-93683600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr9:93682400-93684000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:93682400-93684000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:93682400-93684800	Enhancers	Pancreas	Pancrea
22	chr9:93682600-93683200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:93682600-93683200	Enhancers	NHEK	skin
24	chr9:93682600-93683600	Weak transcription	Fetal Muscle Leg	muscle
25	chr9:93682600-93683800	Enhancers	Brain Anterior Caudate	brain
26	chr9:93682600-93683800	Enhancers	Fetal Lung	lung
27	chr9:93682600-93684600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:93682800-93683200	Flanking Active TSS	Fetal Brain Male	brain
29	chr9:93682800-93683200	Enhancers	Stomach Smooth Muscle	stomach
30	chr9:93682800-93683400	Flanking Active TSS	Fetal Heart	heart
31	chr9:93683000-93684000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr9:93683000-93692000	Weak transcription	Right Ventricle	heart
33	chr9:93683200-93683400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr9:93683200-93683600	Flanking Active TSS	HMEC	breast
35	chr9:93683200-93683600	Flanking Active TSS	NHEK	skin
36	chr9:93683200-93683800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:93683200-93683800	Enhancers	Fetal Brain Male	brain
38	chr9:93683200-93684000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:93683200-93684000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr9:93683200-93684000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr9:93683200-93684000	Enhancers	Liver	Liver

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