Variant report

Variant	esv14676
Chromosome Location	chr11:24802976-24804016
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	chr11:24802681..24803507-chr11:25755699..25756641,3	MCF-7	breast:
2	chr11:24802835..24803539-chr11:25755478..25755981,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254456	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371869202	chr11:24803003-24803004	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538638143	chr11:24803004-24803005	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs76276745	chr11:24803032-24803033	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs1386248	chr11:24803061-24803062	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538176099	chr11:24803074-24803075	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79744194	chr11:24803095-24803096	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574595261	chr11:24803099-24803100	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540282713	chr11:24803105-24803106	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10525419	chr11:24803133-24803134	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs5790438	chr11:24803134-24803135	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553911654	chr11:24803144-24803145	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577050807	chr11:24803157-24803158	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545811818	chr11:24803186-24803187	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375412962	chr11:24803194-24803195	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1386247	chr11:24803201-24803202	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2129358	chr11:24803203-24803204	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs376043271	chr11:24803217-24803218	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544903868	chr11:24803258-24803259	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376323307	chr11:24803261-24803262	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530241757	chr11:24803269-24803270	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs76779952	chr11:24803331-24803332	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs137921631	chr11:24803332-24803333	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532499949	chr11:24803348-24803349	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143388722	chr11:24803360-24803361	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184047491	chr11:24803364-24803365	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs1386246	chr11:24803380-24803381	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs189130086	chr11:24803426-24803427	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs1386245	chr11:24803438-24803439	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11028172	chr11:24803458-24803459	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs145743029	chr11:24803469-24803470	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138757811	chr11:24803545-24803546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142746801	chr11:24803553-24803554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2631398	chr11:24803571-24803572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12270328	chr11:24803577-24803578	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192842067	chr11:24803591-24803592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561617091	chr11:24803606-24803607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530360832	chr11:24803618-24803619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150890401	chr11:24803656-24803657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2631397	chr11:24803665-24803666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12277395	chr11:24803678-24803679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2631396	chr11:24803726-24803727	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs11820007	chr11:24803738-24803739	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554960562	chr11:24803780-24803781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2631395	chr11:24803813-24803814	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs377166756	chr11:24803835-24803836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185288370	chr11:24803868-24803869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541690102	chr11:24803874-24803875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117008923	chr11:24803887-24803888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534108766	chr11:24803892-24803893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10834484	chr11:24803895-24803896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24803000-24804200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr11:24803000-24805600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr11:24803200-24804000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:24803200-24804600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:24803400-24803800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr11:24803400-24804000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:24803400-24804200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:24803400-24804200	Enhancers	Fetal Intestine Large	intestine
9	chr11:24803600-24805200	Enhancers	Fetal Heart	heart
10	chr11:24803800-24804200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:24803800-24804400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:24804000-24805200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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