Variant report

Variant	nsv1035254
Chromosome Location	chr11:45457183-45487231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45475301..45477081-chr11:45482793..45484529,2	K562	blood:
2	chr11:45467808..45470251-chr11:45470633..45473051,2	K562	blood:
3	chr11:45475301..45477081-chr11:45482793..45484529,2	K562	blood:
4	chr11:45467808..45470251-chr11:45470633..45473051,2	K562	blood:
5	chr11:45471412..45471912-chr22:22020793..22021786,2	MCF-7	breast:
6	chr11:45481521..45483456-chr11:45488873..45491103,2	MCF-7	breast:
7	chr1:26758496..26759237-chr11:45476532..45477032,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000117682	chromatin interactions

Extended variants
information (count: 1269 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1269 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10838468	chr11:45457183-45457184	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572273031	chr11:45457193-45457194	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185525608	chr11:45457196-45457197	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564359531	chr11:45457210-45457211	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs533454248	chr11:45457212-45457213	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs543979161	chr11:45457214-45457215	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs563772467	chr11:45457216-45457217	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs1488663	chr11:45457224-45457225	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549326906	chr11:45457252-45457253	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs61880571	chr11:45457263-45457264	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs566334533	chr11:45457270-45457271	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs528809019	chr11:45457336-45457337	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs547361322	chr11:45457359-45457360	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs538922878	chr11:45457360-45457361	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs570159686	chr11:45457418-45457419	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs141784872	chr11:45457423-45457424	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs549425961	chr11:45457426-45457427	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs190229266	chr11:45457515-45457516	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs558856124	chr11:45457613-45457614	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535612487	chr11:45457653-45457654	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373979688	chr11:45457665-45457666	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555302779	chr11:45457744-45457745	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550817368	chr11:45457752-45457753	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145530504	chr11:45457756-45457757	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147751015	chr11:45457775-45457776	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375442514	chr11:45457778-45457779	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558178510	chr11:45457786-45457787	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578034903	chr11:45457788-45457789	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372484041	chr11:45457816-45457817	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543845352	chr11:45457822-45457823	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76015607	chr11:45457841-45457842	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11038466	chr11:45457902-45457903	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs554718592	chr11:45457904-45457905	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543182932	chr11:45457909-45457910	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559729424	chr11:45457986-45457987	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12284900	chr11:45457987-45457988	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150195349	chr11:45457995-45457996	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565247586	chr11:45457997-45457998	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542423642	chr11:45458080-45458081	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs532732701	chr11:45458089-45458090	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs549391171	chr11:45458138-45458139	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs181101255	chr11:45458150-45458151	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs186139957	chr11:45458157-45458158	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs549153716	chr11:45458169-45458170	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs553155412	chr11:45458176-45458177	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs566367737	chr11:45458202-45458203	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs565781661	chr11:45458233-45458234	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs558041476	chr11:45458291-45458292	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs578008716	chr11:45458324-45458325	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs75243750	chr11:45458369-45458370	Weak transcription Enhancers Bivalent Enhancer	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45447800-45462400	Weak transcription	Fetal Brain Male	brain
2	chr11:45456800-45457800	Enhancers	Spleen	Spleen
3	chr11:45457000-45457400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
4	chr11:45457000-45466200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:45457200-45457600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:45457200-45457600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr11:45457200-45458000	Bivalent Enhancer	Fetal Stomach	stomach
8	chr11:45457200-45458200	Enhancers	Brain Germinal Matrix	brain
9	chr11:45457200-45459200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr11:45457400-45458000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:45457400-45458000	Bivalent Enhancer	Brain Substantia Nigra	brain
12	chr11:45457400-45458400	Bivalent Enhancer	Brain Hippocampus Middle	brain
13	chr11:45457400-45458600	Enhancers	Brain Anterior Caudate	brain
14	chr11:45457400-45459000	Enhancers	Brain Cingulate Gyrus	brain
15	chr11:45457400-45459200	Enhancers	Brain Angular Gyrus	brain
16	chr11:45457400-45459200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:45457600-45459000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:45457800-45458200	Bivalent Enhancer	Osteobl	bone
19	chr11:45458200-45459000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:45459000-45459200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr11:45459000-45459200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
22	chr11:45459000-45463400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:45461600-45463000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:45462400-45462600	Enhancers	Fetal Brain Male	brain
25	chr11:45462600-45470600	Weak transcription	Fetal Brain Male	brain
26	chr11:45463400-45463800	Enhancers	Brain Cingulate Gyrus	brain
27	chr11:45466000-45466200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:45466200-45466600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:45466200-45466600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:45466200-45466800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr11:45466200-45467000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr11:45466200-45467000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr11:45466200-45467000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:45466200-45467000	Enhancers	HMEC	breast
35	chr11:45466200-45467000	Bivalent Enhancer	NHEK	skin
36	chr11:45466400-45466800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:45466600-45467000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr11:45466600-45467000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr11:45466600-45467000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:45466600-45474200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:45466800-45467000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:45469400-45471000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr11:45469600-45469800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr11:45469800-45470600	Enhancers	Fetal Muscle Trunk	muscle
45	chr11:45469800-45471600	Bivalent Enhancer	Fetal Stomach	stomach
46	chr11:45470000-45470600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr11:45470200-45471200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:45470200-45471800	Enhancers	Spleen	Spleen
49	chr11:45470200-45473800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:45470400-45470800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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