Variant report

Variant	esv2761812
Chromosome Location	chr13:95639780-95643937
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	chr13:95312681..95313521-chr13:95640932..95641462,2	MCF-7	breast:
2	chr13:95640676..95641188-chr13:95808244..95809124,2	MCF-7	breast:

Extended variants
information (count: 176 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534735737	chr13:95639793-95639794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2209540	chr13:95639797-95639798	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs578049286	chr13:95639813-95639814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537121744	chr13:95639850-95639851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376073307	chr13:95639865-95639866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557544934	chr13:95639881-95639882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369195802	chr13:95639888-95639889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574185562	chr13:95639933-95639934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2225007	chr13:95639934-95639935	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs560130219	chr13:95639948-95639949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2209539	chr13:95639962-95639963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs148704716	chr13:95640028-95640029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181473191	chr13:95640033-95640034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2209538	chr13:95640035-95640036	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544012946	chr13:95640040-95640041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561018583	chr13:95640043-95640044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186211960	chr13:95640071-95640072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201572859	chr13:95640078-95640079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199526549	chr13:95640079-95640080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75003604	chr13:95640081-95640082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3046294	chr13:95640101-95640102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117936411	chr13:95640102-95640103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373409989	chr13:95640112-95640113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546378005	chr13:95640226-95640227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111383791	chr13:95640258-95640259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114476682	chr13:95640372-95640373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142462646	chr13:95640374-95640375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571515796	chr13:95640377-95640378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151336712	chr13:95640420-95640421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531059017	chr13:95640429-95640430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557200682	chr13:95640437-95640438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78979946	chr13:95640463-95640464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369074465	chr13:95640500-95640501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140602699	chr13:95640504-95640505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1925869	chr13:95640565-95640566	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145827968	chr13:95640570-95640571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563765791	chr13:95640582-95640583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559190816	chr13:95640612-95640613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575162499	chr13:95640626-95640627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61965527	chr13:95640649-95640650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79131989	chr13:95640651-95640652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544193617	chr13:95640673-95640674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200113959	chr13:95640690-95640691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560858257	chr13:95640717-95640718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146603151	chr13:95640726-95640727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181646348	chr13:95640728-95640729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559884382	chr13:95640795-95640796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549736690	chr13:95640815-95640816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1925868	chr13:95640830-95640831	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552222417	chr13:95640844-95640845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95637600-95640800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr13:95637600-95640800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr13:95637600-95645200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:95638000-95644800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:95639400-95641000	Enhancers	Stomach Mucosa	stomach
6	chr13:95640800-95641000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr13:95640800-95641400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:95640800-95641400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr13:95641000-95644400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr13:95641400-95644600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr13:95641400-95646600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr13:95643800-95647600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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