Variant report

Variant	nsv561494
Chromosome Location	chr13:38065446-38118531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:37575595..37577181-chr13:38087888..38090592,2	K562	blood:
2	chr13:38102650..38103577-chr2:89203042..89203932,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXOSC8-2	chr13:38109952-38109988	XLOC_010349
2	lnc-EXOSC8-2	chr13:38109077-38109101	XLOC_010349

Variant related genes	Relation type
ENSG00000120699	chromatin interactions

Extended variants
information (count: 1380 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1380 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9646096	chr13:38065446-38065447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs555628415	chr13:38065472-38065473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145082550	chr13:38065473-38065474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540207344	chr13:38065495-38065496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147935736	chr13:38065517-38065518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114295483	chr13:38065533-38065534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546019221	chr13:38065546-38065547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141714129	chr13:38065575-38065576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531763341	chr13:38065645-38065646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548807383	chr13:38065668-38065669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527550490	chr13:38065740-38065741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528012254	chr13:38065769-38065770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567451239	chr13:38065782-38065783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112137783	chr13:38065794-38065795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546597245	chr13:38065825-38065826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371388062	chr13:38065846-38065847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538724669	chr13:38065887-38065888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531931535	chr13:38065940-38065941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551938440	chr13:38065958-38065959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568943832	chr13:38065980-38065981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187987319	chr13:38066037-38066038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547394953	chr13:38066208-38066209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375162946	chr13:38066214-38066215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200497240	chr13:38066278-38066279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146789629	chr13:38066279-38066280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386378834	chr13:38066287-38066288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201625777	chr13:38066289-38066290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs33989486	chr13:38066290-38066291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386770061	chr13:38066291-38066292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200963459	chr13:38066292-38066293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5028160	chr13:38066293-38066294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34217553	chr13:38066309-38066310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35189417	chr13:38066310-38066311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552150037	chr13:38066329-38066330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4580032	chr13:38066351-38066352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs371103840	chr13:38066402-38066403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151124302	chr13:38066472-38066473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1923712	chr13:38066478-38066479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs78933065	chr13:38066479-38066480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9594215	chr13:38066517-38066518	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556340106	chr13:38066523-38066524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576495219	chr13:38066537-38066538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542413514	chr13:38066559-38066560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113242777	chr13:38066597-38066598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527973501	chr13:38066605-38066606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191642997	chr13:38066627-38066628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35502536	chr13:38066645-38066646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1923713	chr13:38066657-38066658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540511653	chr13:38066667-38066668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs729542	chr13:38066671-38066672	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

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
Breast cancer	22522925	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38056200-38065600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr13:38058600-38065600	Weak transcription	Fetal Stomach	stomach
3	chr13:38059400-38066000	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:38060200-38065600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:38061400-38070000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:38061800-38066800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr13:38062200-38067800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr13:38062800-38067600	Enhancers	NHDF-Ad	bronchial
9	chr13:38063600-38066200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:38064000-38065600	Weak transcription	NH-A	brain
11	chr13:38064600-38065800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:38064600-38065800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:38064600-38065800	Weak transcription	HSMM	muscle
14	chr13:38064600-38065800	Weak transcription	NHLF	lung
15	chr13:38064800-38065800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:38064800-38065800	Weak transcription	Osteobl	bone
17	chr13:38064800-38066600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:38065000-38066200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:38065200-38066000	Enhancers	Fetal Lung	lung
20	chr13:38065200-38068400	Enhancers	HSMMtube	muscle
21	chr13:38065600-38066000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:38065600-38066000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:38065600-38066000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr13:38065600-38066000	Enhancers	Fetal Muscle Leg	muscle
25	chr13:38065600-38067600	Enhancers	HMEC	breast
26	chr13:38065600-38067600	Enhancers	NH-A	brain
27	chr13:38065600-38067800	Enhancers	Rectal Smooth Muscle	rectum
28	chr13:38065600-38068400	Enhancers	Fetal Stomach	stomach
29	chr13:38065800-38066200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:38065800-38067600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:38065800-38067600	Enhancers	NHLF	lung
32	chr13:38065800-38068000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:38065800-38068200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:38065800-38068200	Enhancers	HSMM	muscle
35	chr13:38065800-38069800	Enhancers	Osteobl	bone
36	chr13:38066000-38067000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr13:38066000-38067000	Weak transcription	Fetal Muscle Leg	muscle
38	chr13:38066000-38069200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:38066000-38069200	Enhancers	Colon Smooth Muscle	Colon
40	chr13:38066200-38067200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:38066200-38069200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr13:38066200-38070000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:38066400-38067600	Enhancers	NHEK	skin
44	chr13:38066600-38067600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:38066800-38067200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr13:38067000-38067200	Enhancers	Left Ventricle	heart
47	chr13:38067000-38067600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:38067000-38067600	Enhancers	Fetal Muscle Leg	muscle
49	chr13:38067200-38067400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:38067200-38069400	Weak transcription	Left Ventricle	heart

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