Variant report

Variant	esv32904
Chromosome Location	chr13:55305891-55308489
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	chr13:55286253..55286882-chr13:55307575..55308197,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536865090	chr13:55306456-55306457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550758488	chr13:55306477-55306478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2898211	chr13:55306494-55306495	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs112531090	chr13:55306500-55306501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74698235	chr13:55306549-55306550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115119163	chr13:55306550-55306551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187494515	chr13:55306564-55306565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141588487	chr13:55306576-55306577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538927448	chr13:55306582-55306583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558627689	chr13:55306585-55306586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577946627	chr13:55306599-55306600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533972414	chr13:55306613-55306614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1471449	chr13:55306699-55306700	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574022881	chr13:55306709-55306710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559023450	chr13:55306715-55306716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12859404	chr13:55306725-55306726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12862712	chr13:55306734-55306735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528164353	chr13:55306744-55306745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12859472	chr13:55306773-55306774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12859807	chr13:55306802-55306803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377650951	chr13:55306812-55306813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192692707	chr13:55306816-55306817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556295559	chr13:55306817-55306818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576268231	chr13:55306881-55306882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545291686	chr13:55306900-55306901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565475324	chr13:55306973-55306974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73497160	chr13:55306995-55306996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572339809	chr13:55307011-55307012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147035733	chr13:55307021-55307022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560945127	chr13:55307038-55307039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202107096	chr13:55307079-55307080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11331122	chr13:55307080-55307081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs398037601	chr13:55307081-55307082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183384564	chr13:55307086-55307087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11838910	chr13:55307105-55307106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569864446	chr13:55307146-55307147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532377291	chr13:55307169-55307170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142014127	chr13:55307209-55307210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188616164	chr13:55307240-55307241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7988018	chr13:55307266-55307267	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553834393	chr13:55307275-55307276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567329025	chr13:55307277-55307278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536334496	chr13:55307297-55307298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574834255	chr13:55307467-55307468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34066033	chr13:55307620-55307621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543631911	chr13:55307683-55307684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1871248	chr13:55307711-55307712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113872921	chr13:55307735-55307736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200764149	chr13:55307766-55307767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1471448	chr13:55307790-55307791	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Esophageal squamous carcinoma	17470683	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55306400-55309000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr13:55306600-55308000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:55306800-55307400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:55306800-55308000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:55307000-55307600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:55307200-55307800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:55307600-55308000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:55307600-55308200	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links