Variant report

Variant	nsv826752
Chromosome Location	chr13:95974510-95976514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147924890	chr13:95974525-95974526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541792482	chr13:95974554-95974555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61974991	chr13:95974576-95974577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371505097	chr13:95974587-95974588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574521328	chr13:95974672-95974673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374900537	chr13:95974722-95974723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368172298	chr13:95974743-95974744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142111140	chr13:95974757-95974758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144231051	chr13:95974787-95974788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200038901	chr13:95974789-95974790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2484980	chr13:95974790-95974791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs200602374	chr13:95974791-95974792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201244594	chr13:95974792-95974793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4773883	chr13:95974793-95974794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569327094	chr13:95974794-95974795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200527038	chr13:95974795-95974796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531738407	chr13:95974808-95974809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187970379	chr13:95974815-95974816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548532957	chr13:95974816-95974817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202194235	chr13:95974845-95974846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542962369	chr13:95974862-95974863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568126757	chr13:95974908-95974909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191881029	chr13:95974912-95974913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112717538	chr13:95974934-95974935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547687624	chr13:95974978-95974979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570854570	chr13:95975028-95975029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150378870	chr13:95975057-95975058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556514488	chr13:95975058-95975059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576066244	chr13:95975074-95975075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9584295	chr13:95975126-95975127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs555369442	chr13:95975140-95975141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572080537	chr13:95975183-95975184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4773884	chr13:95975185-95975186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs145058183	chr13:95975203-95975204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377608067	chr13:95975280-95975281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71679571	chr13:95975281-95975282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs398117773	chr13:95975292-95975293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9524909	chr13:95975293-95975294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35112150	chr13:95975294-95975295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371697063	chr13:95975295-95975296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578030627	chr13:95975318-95975319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141033588	chr13:95975322-95975323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182980870	chr13:95975334-95975335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377120783	chr13:95975343-95975344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369474808	chr13:95975347-95975348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563357030	chr13:95975374-95975375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2992913	chr13:95975382-95975383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs75306461	chr13:95975389-95975390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548400663	chr13:95975394-95975395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561698316	chr13:95975409-95975410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	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
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95971000-95976400	Weak transcription	K562	blood
2	chr13:95972600-95976200	Weak transcription	HUVEC	blood vessel
3	chr13:95974400-95974600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:95974800-95976200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr13:95976200-95976400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr13:95976200-95977000	Enhancers	HUVEC	blood vessel
7	chr13:95976200-95977200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr13:95976400-95976800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:95976400-95976800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:95976400-95976800	Enhancers	K562	blood

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