Variant report

Variant	nsv561510
Chromosome Location	chr13:38102923-38119096
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	chr13:38102650..38103577-chr2:89203042..89203932,2	MCF-7	breast:

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

Extended variants
information (count: 541 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9315499	chr13:38102923-38102924	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570409702	chr13:38102952-38102953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189937659	chr13:38102958-38102959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7334289	chr13:38102990-38102991	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs76759374	chr13:38102992-38102993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546669880	chr13:38103004-38103005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374254889	chr13:38103017-38103018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567096962	chr13:38103036-38103037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138116292	chr13:38103092-38103093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145037244	chr13:38103113-38103114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575965096	chr13:38103137-38103138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7335400	chr13:38103152-38103153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs535330267	chr13:38103161-38103162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556726806	chr13:38103168-38103169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1358995	chr13:38103200-38103201	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9547927	chr13:38103225-38103226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559373212	chr13:38103255-38103256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182102570	chr13:38103264-38103265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575437736	chr13:38103269-38103270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35081897	chr13:38103275-38103276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374960079	chr13:38103358-38103359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544766839	chr13:38103359-38103360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564839405	chr13:38103377-38103378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76479833	chr13:38103441-38103442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185235564	chr13:38103445-38103446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75531057	chr13:38103450-38103451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561159189	chr13:38103477-38103478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530082308	chr13:38103479-38103480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374483533	chr13:38103481-38103482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1358993	chr13:38103501-38103502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566936167	chr13:38103503-38103504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141777564	chr13:38103519-38103520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2025245	chr13:38103577-38103578	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs144547530	chr13:38103609-38103610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9576293	chr13:38103622-38103623	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs530421440	chr13:38103633-38103634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369332921	chr13:38103661-38103662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2025244	chr13:38103680-38103681	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74664754	chr13:38103685-38103686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188937144	chr13:38103689-38103690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552804875	chr13:38103736-38103737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572557878	chr13:38103794-38103795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544700557	chr13:38103818-38103819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558371430	chr13:38103866-38103867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547128409	chr13:38103887-38103888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193249786	chr13:38103891-38103892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530925364	chr13:38103902-38103903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115390476	chr13:38103945-38103946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372216469	chr13:38103987-38103988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561207289	chr13:38104019-38104020	Enhancers 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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38100000-38103800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:38102000-38104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:38102400-38105200	Weak transcription	NHDF-Ad	bronchial
4	chr13:38102600-38103400	Weak transcription	Osteobl	bone
5	chr13:38103400-38103600	Enhancers	Osteobl	bone
6	chr13:38103600-38104200	Weak transcription	Osteobl	bone
7	chr13:38103600-38104400	Enhancers	Fetal Muscle Leg	muscle
8	chr13:38103800-38104200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:38104000-38104400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:38104200-38104400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:38104200-38104400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:38104200-38104600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:38104200-38105000	Enhancers	Osteobl	bone
14	chr13:38104400-38105400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:38104400-38108400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:38104600-38105000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:38105000-38105800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:38105000-38107400	Weak transcription	Osteobl	bone
19	chr13:38105000-38107800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:38105200-38105800	ZNF genes & repeats	NHDF-Ad	bronchial
21	chr13:38105400-38105600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:38105400-38105800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:38105600-38115000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:38105800-38106800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:38105800-38107000	Weak transcription	NHDF-Ad	bronchial
26	chr13:38105800-38108400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:38106800-38109200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:38107400-38109200	Enhancers	Osteobl	bone
29	chr13:38107600-38108000	Weak transcription	NHDF-Ad	bronchial
30	chr13:38107600-38108600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr13:38107800-38108600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:38108000-38108400	Enhancers	NHDF-Ad	bronchial
33	chr13:38108000-38109200	Enhancers	NH-A	brain
34	chr13:38108200-38108400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:38108400-38108600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr13:38108400-38108600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr13:38108400-38108600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:38108400-38108800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:38108400-38108800	Enhancers	Fetal Lung	lung
40	chr13:38108400-38108800	Enhancers	NHLF	lung
41	chr13:38108400-38109200	Flanking Active TSS	NHDF-Ad	bronchial
42	chr13:38108600-38108800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:38108600-38109000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:38108600-38109000	Enhancers	HSMMtube	muscle
45	chr13:38108600-38109200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:38108600-38109200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr13:38108600-38109200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:38108800-38109200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:38108800-38112600	Weak transcription	Fetal Lung	lung
50	chr13:38108800-38113400	Weak transcription	NHLF	lung

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