Variant report

Variant	nsv1037329
Chromosome Location	chr13:65583733-65673656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 458 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545373317	chr13:65597849-65597850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2324735	chr13:65597898-65597899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531119936	chr13:65597949-65597950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543395748	chr13:65597955-65597956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563288511	chr13:65597983-65597984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528982866	chr13:65597994-65597995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549129553	chr13:65598006-65598007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543208737	chr13:65598020-65598021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561929440	chr13:65598043-65598044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565881110	chr13:65598058-65598059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528331158	chr13:65598082-65598083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113049751	chr13:65598102-65598103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77390639	chr13:65598141-65598142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571476098	chr13:65598177-65598178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185215631	chr13:65598204-65598205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536965375	chr13:65598227-65598228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547336045	chr13:65598238-65598239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116308673	chr13:65598285-65598286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567355419	chr13:65598309-65598310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536323940	chr13:65598327-65598328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149554673	chr13:65598391-65598392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78606626	chr13:65598400-65598401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9598940	chr13:65598427-65598428	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189693552	chr13:65598435-65598436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545542545	chr13:65598439-65598440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558888632	chr13:65598455-65598456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148863096	chr13:65598459-65598460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182045559	chr13:65598462-65598463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551768406	chr13:65598469-65598470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143487645	chr13:65598470-65598471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1340812	chr13:65598491-65598492	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs9528876	chr13:65598522-65598523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559361390	chr13:65598528-65598529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9540330	chr13:65598529-65598530	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs551527995	chr13:65598535-65598536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564945113	chr13:65598576-65598577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567898106	chr13:65598627-65598628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535329880	chr13:65598636-65598637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372848553	chr13:65598712-65598713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7984878	chr13:65598723-65598724	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs376533889	chr13:65598743-65598744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188006201	chr13:65598789-65598790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567316470	chr13:65598790-65598791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529524948	chr13:65603805-65603806	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs555688675	chr13:65603813-65603814	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs12877761	chr13:65603841-65603842	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs6562404	chr13:65603891-65603892	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs561521123	chr13:65603909-65603910	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs527325831	chr13:65603951-65603952	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs547090137	chr13:65603953-65603954	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65597800-65598200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr13:65598000-65598800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr13:65603800-65604200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:65603800-65604200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:65611000-65611400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr13:65611200-65611600	Enhancers	A549	lung
7	chr13:65621600-65622000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:65638000-65638600	Enhancers	A549	lung
9	chr13:65638000-65639600	Enhancers	Fetal Heart	heart
10	chr13:65638600-65639600	Weak transcription	A549	lung
11	chr13:65639600-65639800	Enhancers	A549	lung
12	chr13:65649600-65651200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr13:65662800-65667400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:65663400-65664600	Enhancers	Fetal Lung	lung
15	chr13:65663600-65664000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:65663800-65664000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:65664600-65669400	Weak transcription	Fetal Lung	lung
18	chr13:65665200-65665400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:65665400-65666400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:65666400-65666600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr13:65669400-65669800	Enhancers	Fetal Lung	lung
22	chr13:65669400-65670000	Enhancers	Brain Hippocampus Middle	brain
23	chr13:65669600-65670000	Enhancers	Brain Cingulate Gyrus	brain
24	chr13:65669800-65670200	Flanking Active TSS	Fetal Lung	lung

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