Variant report

Variant	nsv511522
Chromosome Location	chr13:38070549-38087145
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 316 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4941870	chr13:38070549-38070550	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73448579	chr13:38070576-38070577	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs4941871	chr13:38070624-38070625	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569764034	chr13:38070639-38070640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140477105	chr13:38070650-38070651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73180687	chr13:38070664-38070665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73448581	chr13:38070696-38070697	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146590428	chr13:38070699-38070700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193246908	chr13:38070700-38070701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140983698	chr13:38070732-38070733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550582516	chr13:38070747-38070748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567312842	chr13:38070831-38070832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150142223	chr13:38070832-38070833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73448583	chr13:38070935-38070936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565908065	chr13:38070977-38070978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566572254	chr13:38071055-38071056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73448585	chr13:38071070-38071071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs9547912	chr13:38071135-38071136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs57125213	chr13:38071136-38071137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs59305536	chr13:38071208-38071209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs111805551	chr13:38071229-38071230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574443793	chr13:38071238-38071239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61010363	chr13:38071266-38071267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532131644	chr13:38071348-38071349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73448586	chr13:38071397-38071398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs147000820	chr13:38071406-38071407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535547782	chr13:38071431-38071432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546055999	chr13:38071433-38071434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371631695	chr13:38071483-38071484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563113113	chr13:38071513-38071514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532035888	chr13:38071520-38071521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542594008	chr13:38071521-38071522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562372036	chr13:38071542-38071543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547102184	chr13:38071562-38071563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185366909	chr13:38071575-38071576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546591945	chr13:38071576-38071577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9532067	chr13:38071592-38071593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187286801	chr13:38071593-38071594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551943346	chr13:38071622-38071623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111293342	chr13:38071665-38071666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184034247	chr13:38071679-38071680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554400718	chr13:38071728-38071729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568357566	chr13:38071745-38071746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188430177	chr13:38071784-38071785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35971807	chr13:38071809-38071810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138190841	chr13:38071812-38071813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34488276	chr13:38071814-38071815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142471912	chr13:38071832-38071833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569618913	chr13:38071840-38071841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12020935	chr13:38071842-38071843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38069000-38070800	Enhancers	Hela-S3	cervix
2	chr13:38069600-38073800	Weak transcription	NHLF	lung
3	chr13:38069800-38073200	Weak transcription	Osteobl	bone
4	chr13:38069800-38075200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:38070000-38073600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:38070000-38075000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:38073200-38074200	Enhancers	Osteobl	bone
8	chr13:38073600-38074400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:38074200-38076200	Weak transcription	Osteobl	bone
10	chr13:38075000-38076400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:38075200-38075400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:38075600-38075800	Enhancers	NHLF	lung
13	chr13:38076200-38076400	Enhancers	Osteobl	bone
14	chr13:38077400-38077800	Enhancers	Fetal Heart	heart
15	chr13:38079600-38080000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:38083800-38084000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:38083800-38084200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr13:38083800-38084400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr13:38083800-38084400	Enhancers	Osteobl	bone
20	chr13:38083800-38085200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:38083800-38085800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr13:38084000-38084200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:38084000-38084200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:38084000-38084200	Flanking Active TSS	NHEK	skin
25	chr13:38084000-38084600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:38084200-38084400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:38084200-38084400	Active TSS	NHEK	skin
28	chr13:38084200-38084600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:38084200-38084600	Enhancers	HMEC	breast
30	chr13:38084400-38084600	Flanking Active TSS	NHEK	skin
31	chr13:38084400-38088600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:38084600-38085600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:38084600-38085600	Enhancers	NHEK	skin
34	chr13:38085200-38085400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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