Variant report

Variant	esv1845152
Chromosome Location	chr13:38099921-38122835
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:38102650..38103577-chr2:89203042..89203932,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXOSC8-2	chr13:38109077-38109101	XLOC_010349
2	lnc-EXOSC8-2	chr13:38121971-38122041	XLOC_010349
3	lnc-EXOSC8-2	chr13:38109952-38109988	XLOC_010349
4	lnc-EXOSC8-2	chr13:38122233-38122377	XLOC_010349
5	lnc-EXOSC8-2	chr13:38122638-38125673	XLOC_010349

No data

Extended variants
information (count: 748 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:748 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9315498	chr13:38099921-38099922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184978505	chr13:38099962-38099963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17055959	chr13:38099964-38099965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541162887	chr13:38100011-38100012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564740910	chr13:38100013-38100014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533333160	chr13:38100014-38100015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552111841	chr13:38100033-38100034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188946147	chr13:38100043-38100044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192910266	chr13:38100049-38100050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7336649	chr13:38100058-38100059	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548125676	chr13:38100123-38100124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567963514	chr13:38100136-38100137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533931486	chr13:38100137-38100138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547161996	chr13:38100192-38100193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528410910	chr13:38100207-38100208	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs115217724	chr13:38100222-38100223	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs574507901	chr13:38100231-38100232	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs377450690	chr13:38100234-38100235	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs370568097	chr13:38100238-38100239	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs7339119	chr13:38100260-38100261	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537057824	chr13:38100280-38100281	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs377683668	chr13:38100286-38100287	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs185245507	chr13:38100288-38100289	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs555778033	chr13:38100320-38100321	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs372288925	chr13:38100446-38100447	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs541547598	chr13:38100482-38100483	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs564218409	chr13:38100523-38100524	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs568314544	chr13:38100561-38100562	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs577836285	chr13:38100605-38100606	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs61056258	chr13:38100620-38100621	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189778818	chr13:38100637-38100638	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs35896275	chr13:38100669-38100670	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs550504701	chr13:38100673-38100674	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs148641123	chr13:38100680-38100681	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs9576292	chr13:38100697-38100698	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs527272757	chr13:38100710-38100711	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs17255424	chr13:38100725-38100726	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs570530256	chr13:38100729-38100730	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs12429236	chr13:38100763-38100764	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs17255466	chr13:38100807-38100808	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs144275291	chr13:38100808-38100809	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs535781537	chr13:38100819-38100820	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs181108068	chr13:38100884-38100885	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573326041	chr13:38100934-38100935	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs183740766	chr13:38100951-38100952	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs9566230	chr13:38100972-38100973	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188210614	chr13:38100975-38100976	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs367797789	chr13:38100989-38100990	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs543609964	chr13:38101002-38101003	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs569724271	chr13:38101004-38101005	Enhancers Flanking Active TSS	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38098800-38100800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:38099000-38100200	Weak transcription	NHDF-Ad	bronchial
3	chr13:38100000-38100200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr13:38100000-38103800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:38100200-38101200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:38100200-38102400	Enhancers	NHDF-Ad	bronchial
7	chr13:38100400-38102600	Enhancers	Osteobl	bone
8	chr13:38100600-38101400	Enhancers	NHLF	lung
9	chr13:38100600-38102400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:38100800-38102000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:38101200-38102400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:38102000-38104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:38102400-38105200	Weak transcription	NHDF-Ad	bronchial
14	chr13:38102600-38103400	Weak transcription	Osteobl	bone
15	chr13:38103400-38103600	Enhancers	Osteobl	bone
16	chr13:38103600-38104200	Weak transcription	Osteobl	bone
17	chr13:38103600-38104400	Enhancers	Fetal Muscle Leg	muscle
18	chr13:38103800-38104200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:38104000-38104400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:38104200-38104400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:38104200-38104400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:38104200-38104600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:38104200-38105000	Enhancers	Osteobl	bone
24	chr13:38104400-38105400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:38104400-38108400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr13:38104600-38105000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:38105000-38105800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:38105000-38107400	Weak transcription	Osteobl	bone
29	chr13:38105000-38107800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:38105200-38105800	ZNF genes & repeats	NHDF-Ad	bronchial
31	chr13:38105400-38105600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:38105400-38105800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:38105600-38115000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:38105800-38106800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:38105800-38107000	Weak transcription	NHDF-Ad	bronchial
36	chr13:38105800-38108400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:38106800-38109200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:38107400-38109200	Enhancers	Osteobl	bone
39	chr13:38107600-38108000	Weak transcription	NHDF-Ad	bronchial
40	chr13:38107600-38108600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr13:38107800-38108600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:38108000-38108400	Enhancers	NHDF-Ad	bronchial
43	chr13:38108000-38109200	Enhancers	NH-A	brain
44	chr13:38108200-38108400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr13:38108400-38108600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr13:38108400-38108600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:38108400-38108600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:38108400-38108800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:38108400-38108800	Enhancers	Fetal Lung	lung
50	chr13:38108400-38108800	Enhancers	NHLF	lung

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