Variant report

Variant	esv3454086
Chromosome Location	chr11:45427876-45433574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45427988..45430237-chr11:45431939..45433599,2	K562	blood:
2	chr11:45427597..45428482-chr11:45792562..45793604,3	MCF-7	breast:
3	chr11:45427988..45430237-chr11:45431939..45433599,2	K562	blood:
4	chr11:45427814..45428397-chr11:45676543..45677286,2	MCF-7	breast:
5	chr11:45392504..45393419-chr11:45427914..45428464,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255267	chromatin interactions
ENSG00000205106	chromatin interactions

Extended variants
information (count: 200 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:200 , 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	rs186395497	chr11:45427900-45427901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539304330	chr11:45427945-45427946	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs149008568	chr11:45427970-45427971	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs115447669	chr11:45428003-45428004	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200505813	chr11:45428050-45428051	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs543056361	chr11:45428110-45428111	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs562947459	chr11:45428125-45428126	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs143001018	chr11:45428141-45428142	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73456050	chr11:45428172-45428173	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs190231211	chr11:45428225-45428226	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528301189	chr11:45428231-45428232	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs536748567	chr11:45428232-45428233	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs554986313	chr11:45428249-45428250	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs376114604	chr11:45428257-45428258	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs182447050	chr11:45428296-45428297	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs530841569	chr11:45428326-45428327	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs59166488	chr11:45428351-45428352	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186803439	chr11:45428378-45428379	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569489043	chr11:45428410-45428411	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs369402904	chr11:45428448-45428449	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs112448009	chr11:45428455-45428456	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113381390	chr11:45428462-45428463	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs201500236	chr11:45428466-45428467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530187290	chr11:45428471-45428472	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs202098875	chr11:45428472-45428473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374302743	chr11:45428474-45428475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs71458203	chr11:45428475-45428476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370777337	chr11:45428476-45428477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199829471	chr11:45428477-45428478	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573311542	chr11:45428500-45428501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191131466	chr11:45428501-45428502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559195088	chr11:45428528-45428529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529088168	chr11:45428529-45428530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183265049	chr11:45428538-45428539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59869992	chr11:45428555-45428556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573335761	chr11:45428567-45428568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11038449	chr11:45428593-45428594	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs140052902	chr11:45428628-45428629	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs534562542	chr11:45428741-45428742	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs552837340	chr11:45428784-45428785	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs572982715	chr11:45428804-45428805	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs72899480	chr11:45428842-45428843	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs188956082	chr11:45428889-45428890	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs566881035	chr11:45428896-45428897	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs534274487	chr11:45428903-45428904	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs544536408	chr11:45428933-45428934	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs561252909	chr11:45428947-45428948	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs370822404	chr11:45429003-45429004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547113619	chr11:45429004-45429005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566893380	chr11:45429005-45429006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45405400-45434800	Weak transcription	Right Atrium	heart
2	chr11:45421800-45431600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:45422000-45428200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:45422000-45428800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:45422000-45431600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:45423800-45428800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:45423800-45431400	Weak transcription	HSMM	muscle
8	chr11:45425000-45431400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:45427600-45428000	Enhancers	Liver	Liver
10	chr11:45427600-45428000	Enhancers	HepG2	liver
11	chr11:45428000-45428400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr11:45428200-45429000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:45428200-45429000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:45428200-45429200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr11:45428200-45429800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:45428600-45429000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:45428600-45429000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:45428600-45429000	Active TSS	Spleen	Spleen
19	chr11:45428800-45429200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:45428800-45429200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:45428800-45429200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:45428800-45429400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:45428800-45429400	Enhancers	Fetal Thymus	thymus
24	chr11:45428800-45429800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:45429000-45431200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:45429000-45431600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:45429000-45432000	Weak transcription	Spleen	Spleen
28	chr11:45429200-45430600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:45429200-45431600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:45429200-45431800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:45429400-45431600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:45429800-45430800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:45429800-45431600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:45430600-45430800	Bivalent Enhancer	Fetal Kidney	kidney
35	chr11:45430600-45435800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:45430800-45431000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:45430800-45434800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr11:45431000-45431400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:45431000-45432200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr11:45431000-45433600	Enhancers	NH-A	brain
41	chr11:45431000-45434400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:45431000-45434600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:45431200-45431400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:45431200-45432200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr11:45431200-45434400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:45431400-45431600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:45431400-45431600	Enhancers	HSMM	muscle
48	chr11:45431400-45431800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:45431400-45432000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
50	chr11:45431400-45432200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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