Variant report

Variant	nsv1054580
Chromosome Location	chr13:38066478-38084745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 416 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1923712	chr13:38066478-38066479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78933065	chr13:38066479-38066480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9594215	chr13:38066517-38066518	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556340106	chr13:38066523-38066524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576495219	chr13:38066537-38066538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542413514	chr13:38066559-38066560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113242777	chr13:38066597-38066598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527973501	chr13:38066605-38066606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191642997	chr13:38066627-38066628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35502536	chr13:38066645-38066646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1923713	chr13:38066657-38066658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540511653	chr13:38066667-38066668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs729542	chr13:38066671-38066672	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs182450522	chr13:38066693-38066694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs5802881	chr13:38066763-38066764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs729543	chr13:38066788-38066789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9603215	chr13:38066822-38066823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144533838	chr13:38066851-38066852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372612801	chr13:38066858-38066859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200372946	chr13:38066869-38066870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567956254	chr13:38066893-38066894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17055926	chr13:38066969-38066970	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533457993	chr13:38066975-38066976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553734222	chr13:38066999-38067000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141096791	chr13:38067016-38067017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74046294	chr13:38067030-38067031	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73448570	chr13:38067050-38067051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576582242	chr13:38067053-38067054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551847231	chr13:38067087-38067088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17055929	chr13:38067102-38067103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs17055932	chr13:38067143-38067144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541623452	chr13:38067199-38067200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35385436	chr13:38067227-38067228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576972590	chr13:38067232-38067233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564591934	chr13:38067260-38067261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568547969	chr13:38067319-38067320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150203714	chr13:38067326-38067327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186706302	chr13:38067358-38067359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138792770	chr13:38067365-38067366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114642606	chr13:38067455-38067456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547932249	chr13:38067456-38067457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs58558200	chr13:38067518-38067519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs7988348	chr13:38067552-38067553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs59106088	chr13:38067554-38067555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs12583353	chr13:38067575-38067576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs34985319	chr13:38067591-38067592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192624401	chr13:38067639-38067640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549890999	chr13:38067644-38067645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570104430	chr13:38067652-38067653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145677841	chr13:38067654-38067655	Weak transcription Enhancers	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38061400-38070000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:38061800-38066800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr13:38062200-38067800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr13:38062800-38067600	Enhancers	NHDF-Ad	bronchial
5	chr13:38064800-38066600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:38065200-38068400	Enhancers	HSMMtube	muscle
7	chr13:38065600-38067600	Enhancers	HMEC	breast
8	chr13:38065600-38067600	Enhancers	NH-A	brain
9	chr13:38065600-38067800	Enhancers	Rectal Smooth Muscle	rectum
10	chr13:38065600-38068400	Enhancers	Fetal Stomach	stomach
11	chr13:38065800-38067600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:38065800-38067600	Enhancers	NHLF	lung
13	chr13:38065800-38068000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:38065800-38068200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr13:38065800-38068200	Enhancers	HSMM	muscle
16	chr13:38065800-38069800	Enhancers	Osteobl	bone
17	chr13:38066000-38067000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:38066000-38067000	Weak transcription	Fetal Muscle Leg	muscle
19	chr13:38066000-38069200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:38066000-38069200	Enhancers	Colon Smooth Muscle	Colon
21	chr13:38066200-38067200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:38066200-38069200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:38066200-38070000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:38066400-38067600	Enhancers	NHEK	skin
25	chr13:38066600-38067600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:38066800-38067200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr13:38067000-38067200	Enhancers	Left Ventricle	heart
28	chr13:38067000-38067600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:38067000-38067600	Enhancers	Fetal Muscle Leg	muscle
30	chr13:38067200-38067400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:38067200-38069400	Weak transcription	Left Ventricle	heart
32	chr13:38067200-38070000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr13:38067600-38068200	Weak transcription	Fetal Muscle Leg	muscle
34	chr13:38067600-38069200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:38067600-38069200	Weak transcription	HMEC	breast
36	chr13:38067600-38069200	Weak transcription	NHDF-Ad	bronchial
37	chr13:38067600-38069400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:38067600-38069400	Weak transcription	NHEK	skin
39	chr13:38067600-38069400	Weak transcription	NHLF	lung
40	chr13:38067800-38069000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr13:38068000-38068400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr13:38068200-38068400	Enhancers	Fetal Muscle Leg	muscle
43	chr13:38068200-38069200	Weak transcription	HSMM	muscle
44	chr13:38068400-38069000	Weak transcription	HSMMtube	muscle
45	chr13:38068400-38069600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:38068400-38069800	Weak transcription	Fetal Muscle Leg	muscle
47	chr13:38069000-38070000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr13:38069000-38070000	Enhancers	HSMMtube	muscle
49	chr13:38069000-38070800	Enhancers	Hela-S3	cervix
50	chr13:38069200-38069600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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