Variant report

Variant	nsv977270
Chromosome Location	chr13:94047238-94047882
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181502155	chr13:94047247-94047248	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17234460	chr13:94047270-94047271	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572056261	chr13:94047279-94047280	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545238724	chr13:94047291-94047292	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565336888	chr13:94047330-94047331	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184733910	chr13:94047347-94047348	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564220860	chr13:94047361-94047362	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111587347	chr13:94047402-94047403	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577289235	chr13:94047411-94047412	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533053070	chr13:94047440-94047441	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112414935	chr13:94047443-94047444	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148896179	chr13:94047467-94047468	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2762114	chr13:94047500-94047501	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549312344	chr13:94047527-94047528	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189137677	chr13:94047528-94047529	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113153155	chr13:94047531-94047532	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563314704	chr13:94047623-94047624	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528922604	chr13:94047625-94047626	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557854759	chr13:94047634-94047635	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138064756	chr13:94047652-94047653	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548982503	chr13:94047665-94047666	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75605351	chr13:94047697-94047698	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551078940	chr13:94047734-94047735	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569909698	chr13:94047786-94047787	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578038912	chr13:94047842-94047843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180976690	chr13:94047847-94047848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94046600-94052400	Weak transcription	Fetal Brain Male	brain
2	chr13:94047000-94047800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:94047800-94057200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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