Variant report

Variant	esv3326054
Chromosome Location	chr11:25624001-25626549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74368133	chr11:25624057-25624058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374764749	chr11:25624058-25624059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144789777	chr11:25624071-25624072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192620566	chr11:25624096-25624097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563028573	chr11:25624128-25624129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533727120	chr11:25624142-25624143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1115420	chr11:25624144-25624145	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183673375	chr11:25624147-25624148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187994633	chr11:25624153-25624154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1115419	chr11:25624165-25624166	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs3992962	chr11:25624175-25624176	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529069511	chr11:25624184-25624185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550800516	chr11:25624189-25624190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569011759	chr11:25624229-25624230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548887928	chr11:25624251-25624252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539755899	chr11:25624257-25624258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559488712	chr11:25624294-25624295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551767685	chr11:25624332-25624333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566897527	chr11:25624344-25624345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372504536	chr11:25624349-25624350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534209599	chr11:25624368-25624369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77686009	chr11:25624373-25624374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17242426	chr11:25624388-25624389	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs538050286	chr11:25624419-25624420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17242433	chr11:25624426-25624427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546193239	chr11:25624467-25624468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578152746	chr11:25624477-25624478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545311321	chr11:25624480-25624481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75023102	chr11:25624506-25624507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572490456	chr11:25624509-25624510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539882833	chr11:25624521-25624522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561626714	chr11:25624522-25624523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570871923	chr11:25624586-25624587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538240897	chr11:25624598-25624599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528988604	chr11:25624738-25624739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75584929	chr11:25624744-25624745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562720963	chr11:25624749-25624750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533238117	chr11:25624759-25624760	Enhancers	n/a	n/a	Overlapped CNVs	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
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25623400-25624400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr11:25623400-25624400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:25623400-25624400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:25623400-25624600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:25624000-25624400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:25624400-25624800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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