Variant report

Variant	esv275414
Chromosome Location	chr13:30029818-30036181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30019008..30022354-chr13:30026041..30029936,4	K562	blood:
2	chr13:30032184..30035122-chr13:30054855..30057202,2	MCF-7	breast:
3	chr13:30007620..30009722-chr13:30028117..30030313,2	MCF-7	breast:
4	chr13:30028894..30030049-chr13:30046232..30047100,5	MCF-7	breast:
5	chr13:30031933..30034245-chr13:30038590..30040708,2	MCF-7	breast:
6	chr13:30023123..30025687-chr13:30027980..30030025,2	K562	blood:

Extended variants
information (count: 271 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1986717	chr13:30029818-30029819	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560983675	chr13:30029891-30029892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375549438	chr13:30029909-30029910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150675092	chr13:30029928-30029929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562895249	chr13:30029934-30029935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532080565	chr13:30029954-30029955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181132820	chr13:30029962-30029963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185327232	chr13:30030005-30030006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533912064	chr13:30030010-30030011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2388081	chr13:30030011-30030012	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567437542	chr13:30030021-30030022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117006737	chr13:30030043-30030044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188626011	chr13:30030054-30030055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181373365	chr13:30030079-30030080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9314957	chr13:30030094-30030095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs60944364	chr13:30030125-30030126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112757245	chr13:30030146-30030147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558549634	chr13:30030226-30030227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185902012	chr13:30030237-30030238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73444083	chr13:30030246-30030247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs74952843	chr13:30030288-30030289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574590054	chr13:30030291-30030292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530910958	chr13:30030328-30030329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543150674	chr13:30030332-30030333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563140931	chr13:30030338-30030339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551017554	chr13:30030394-30030395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535570398	chr13:30030400-30030401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149697451	chr13:30030419-30030420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146657036	chr13:30030438-30030439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565462602	chr13:30030506-30030507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140236425	chr13:30030519-30030520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547397544	chr13:30030689-30030690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527895759	chr13:30030712-30030713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547125464	chr13:30030745-30030746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs8003005	chr13:30030784-30030785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144128889	chr13:30030788-30030789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs8002833	chr13:30030800-30030801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs191957749	chr13:30030810-30030811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184164488	chr13:30030860-30030861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574264317	chr13:30030866-30030867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200306681	chr13:30030873-30030874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538474915	chr13:30030983-30030984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111542225	chr13:30030996-30030997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565988000	chr13:30031000-30031001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113714886	chr13:30031001-30031002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556889566	chr13:30031013-30031014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185896956	chr13:30031021-30031022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575025783	chr13:30031040-30031041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543541058	chr13:30031044-30031045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190907113	chr13:30031049-30031050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	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
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Autism	19492091	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30014400-30031400	Weak transcription	Hela-S3	cervix
2	chr13:30015200-30054800	Weak transcription	Dnd41	blood
3	chr13:30027000-30032000	Enhancers	Fetal Heart	heart
4	chr13:30027800-30030400	Weak transcription	HSMMtube	muscle
5	chr13:30028000-30030600	Weak transcription	Ovary	ovary
6	chr13:30028000-30030600	Weak transcription	NHDF-Ad	bronchial
7	chr13:30028600-30034800	Enhancers	HMEC	breast
8	chr13:30029000-30030200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr13:30029200-30030600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:30029200-30030600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:30029200-30031600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr13:30029200-30038800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr13:30029400-30038200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr13:30029600-30030600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:30029600-30031200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:30029600-30036000	Weak transcription	Left Ventricle	heart
17	chr13:30029600-30039400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr13:30029600-30039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:30029800-30030200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:30029800-30030200	Weak transcription	NHEK	skin
21	chr13:30029800-30031400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr13:30029800-30035000	Enhancers	K562	blood
23	chr13:30030200-30030600	Enhancers	Primary hematopoietic stem cells	blood
24	chr13:30030200-30030800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr13:30030200-30034800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr13:30030200-30035000	Enhancers	NHEK	skin
27	chr13:30030400-30034200	Enhancers	HSMMtube	muscle
28	chr13:30030600-30030800	Enhancers	Ovary	ovary
29	chr13:30030600-30030800	Enhancers	NHDF-Ad	bronchial
30	chr13:30030600-30032400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:30030600-30032800	Enhancers	HSMM	muscle
32	chr13:30030600-30035000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:30030800-30031200	Weak transcription	NHDF-Ad	bronchial
34	chr13:30031000-30032200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr13:30031200-30032000	Enhancers	NHDF-Ad	bronchial
36	chr13:30031200-30032200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:30031200-30032400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr13:30031200-30032600	Enhancers	Osteobl	bone
39	chr13:30031200-30033000	Enhancers	NH-A	brain
40	chr13:30031400-30032000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:30031400-30032000	Enhancers	Hela-S3	cervix
42	chr13:30031400-30032000	Enhancers	HUVEC	blood vessel
43	chr13:30031400-30032200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:30031400-30032400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr13:30031400-30032400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:30031400-30032400	Enhancers	Placenta	Placenta
47	chr13:30031600-30031800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr13:30032000-30033600	Weak transcription	Fetal Heart	heart
49	chr13:30032200-30033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:30032400-30033800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links