Variant report

Variant	esv3410723
Chromosome Location	chr11:33993778-33994481
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33877921..33880595-chr11:33992729..33995031,2	K562	blood:
2	chr11:33992595..33994153-chr11:34125657..34127905,2	MCF-7	breast:
3	chr11:33988785..33991162-chr11:33994161..33996559,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135372	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562845636	chr11:33993794-33993795	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574385719	chr11:33993825-33993826	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543909008	chr11:33993884-33993885	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375624847	chr11:33993899-33993900	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs386752303	chr11:33993924-33993925	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12273554	chr11:33993926-33993927	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs539807136	chr11:33993941-33993942	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs386752304	chr11:33993966-33993967	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115546740	chr11:33993967-33993968	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs367882246	chr11:33994044-33994045	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562694248	chr11:33994057-33994058	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138652741	chr11:33994062-33994063	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142722742	chr11:33994076-33994077	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112683857	chr11:33994098-33994099	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527704838	chr11:33994108-33994109	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147769014	chr11:33994116-33994117	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547799953	chr11:33994144-33994145	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567895271	chr11:33994146-33994147	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs61880536	chr11:33994199-33994200	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs188597680	chr11:33994228-33994229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570232117	chr11:33994238-33994239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541751848	chr11:33994245-33994246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11607752	chr11:33994246-33994247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557445283	chr11:33994247-33994248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13377582	chr11:33994280-33994281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201471316	chr11:33994306-33994307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34626537	chr11:33994315-33994316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35393433	chr11:33994337-33994338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180733871	chr11:33994349-33994350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533569822	chr11:33994372-33994373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553725301	chr11:33994374-33994375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	19100363	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33993000-33998200	Weak transcription	Hela-S3	cervix
2	chr11:33993200-33997800	Weak transcription	Adipose Nuclei	Adipose
3	chr11:33993200-33998000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:33993200-33998000	Weak transcription	Fetal Lung	lung
5	chr11:33993400-33994000	Active TSS	Placenta	Placenta
6	chr11:33994000-33994200	Flanking Active TSS	Placenta	Placenta
7	chr11:33994200-33998400	Weak transcription	Placenta	Placenta

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