Variant report

Variant	nsv430553
Chromosome Location	chr13:38184100-38203200
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	chr13:38199117..38199777-chr3:184425447..184426229,2	MCF-7	breast:

Extended variants
information (count: 727 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:727 , 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	rs537093607	chr13:38184103-38184104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9566236	chr13:38184165-38184166	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575130150	chr13:38184189-38184190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566711036	chr13:38184238-38184239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371274568	chr13:38184269-38184270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192795723	chr13:38184298-38184299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574307953	chr13:38184313-38184314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184338417	chr13:38184338-38184339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75373860	chr13:38184386-38184387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577107591	chr13:38184413-38184414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147969206	chr13:38184417-38184418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189163672	chr13:38184468-38184469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531589526	chr13:38184495-38184496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74521421	chr13:38184506-38184507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562134099	chr13:38184510-38184511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12862350	chr13:38184668-38184669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114630539	chr13:38184673-38184674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571049309	chr13:38184678-38184679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533731193	chr13:38184694-38184695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534321235	chr13:38184702-38184703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550188073	chr13:38184704-38184705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568869164	chr13:38184739-38184740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2985160	chr13:38184749-38184750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs373862250	chr13:38184757-38184758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554474950	chr13:38184760-38184761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150404740	chr13:38184778-38184779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9532089	chr13:38184810-38184811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7328153	chr13:38184811-38184812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2957210	chr13:38184839-38184840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2957209	chr13:38184892-38184893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553597185	chr13:38184894-38184895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554995236	chr13:38184958-38184959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9576316	chr13:38184985-38184986	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374977637	chr13:38184991-38184992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs193068998	chr13:38184995-38184996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145157504	chr13:38185016-38185017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576403720	chr13:38185036-38185037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542195647	chr13:38185046-38185047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562171075	chr13:38185057-38185058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149169989	chr13:38185086-38185087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541536837	chr13:38185178-38185179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564733208	chr13:38185282-38185283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17056227	chr13:38185356-38185357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550466440	chr13:38185371-38185372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7992705	chr13:38185390-38185391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138863040	chr13:38185401-38185402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577131777	chr13:38185408-38185409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184776377	chr13:38185427-38185428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545847298	chr13:38185459-38185460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567714529	chr13:38185464-38185465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38177000-38190400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr13:38183200-38184400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr13:38183400-38184400	Weak transcription	Placenta	Placenta
4	chr13:38183600-38184200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:38183600-38184400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:38183600-38184600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr13:38184000-38189400	Weak transcription	Osteobl	bone
8	chr13:38184200-38187400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:38184400-38185200	Enhancers	Placenta	Placenta
10	chr13:38184600-38189200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr13:38187400-38188000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:38188000-38188200	Enhancers	NHDF-Ad	bronchial
13	chr13:38188000-38189400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:38188400-38189800	Weak transcription	NHDF-Ad	bronchial
15	chr13:38189000-38189800	Enhancers	NHEK	skin
16	chr13:38189200-38191000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr13:38189200-38192400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:38189400-38189600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr13:38189400-38189800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:38189400-38189800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:38189400-38189800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:38189400-38189800	Enhancers	HMEC	breast
23	chr13:38189400-38190400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:38189400-38191600	Enhancers	HSMM	muscle
25	chr13:38189400-38191600	Enhancers	Osteobl	bone
26	chr13:38189400-38192800	Enhancers	NH-A	brain
27	chr13:38189600-38189800	Enhancers	HSMMtube	muscle
28	chr13:38189600-38189800	Enhancers	NHLF	lung
29	chr13:38189600-38190600	Enhancers	Fetal Heart	heart
30	chr13:38189600-38191000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr13:38189600-38193000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr13:38189800-38190800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:38189800-38190800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:38189800-38190800	Weak transcription	HSMMtube	muscle
35	chr13:38189800-38190800	Weak transcription	NHEK	skin
36	chr13:38189800-38190800	Weak transcription	NHLF	lung
37	chr13:38189800-38191000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:38189800-38191400	Weak transcription	HMEC	breast
39	chr13:38189800-38193200	Enhancers	NHDF-Ad	bronchial
40	chr13:38190200-38192000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:38190200-38192200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:38190400-38190600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:38190400-38190600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr13:38190400-38190600	Enhancers	A549	lung
45	chr13:38190400-38193200	Enhancers	Hela-S3	cervix
46	chr13:38190600-38191000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr13:38190600-38191600	Weak transcription	Fetal Heart	heart
48	chr13:38190600-38191600	Weak transcription	A549	lung
49	chr13:38190600-38193000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:38190800-38191600	Enhancers	NHEK	skin

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