Variant report

Variant	esv3355226
Chromosome Location	chr11:34800976-34805174
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	chr11:34804567..34805318-chr11:34844825..34845441,2	MCF-7	breast:
2	chr11:34802267..34806129-chr11:34812467..34815224,3	K562	blood:

Extended variants
information (count: 161 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs558573440	chr11:34800979-34800980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183691482	chr11:34801063-34801064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376162240	chr11:34801065-34801066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561311819	chr11:34801091-34801092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1588355	chr11:34801101-34801102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189134449	chr11:34801150-34801151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563939562	chr11:34801156-34801157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191957533	chr11:34801204-34801205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184562200	chr11:34801210-34801211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548133946	chr11:34801230-34801231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58864846	chr11:34801400-34801401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs141179938	chr11:34801445-34801446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534799679	chr11:34801450-34801451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187121350	chr11:34801490-34801491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143249908	chr11:34801537-34801538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536001444	chr11:34801544-34801545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191936734	chr11:34801553-34801554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34609257	chr11:34801571-34801572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370815761	chr11:34801572-34801573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56115421	chr11:34801589-34801590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs79426580	chr11:34801591-34801592	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs34282125	chr11:34801630-34801631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs75552445	chr11:34801685-34801686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1509665	chr11:34801719-34801720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563975629	chr11:34801791-34801792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574951703	chr11:34801818-34801819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183704472	chr11:34801833-34801834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78641904	chr11:34801837-34801838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61881073	chr11:34801855-34801856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546260179	chr11:34801888-34801889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559484756	chr11:34801951-34801952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144475925	chr11:34801957-34801958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201744636	chr11:34801958-34801959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201661884	chr11:34801979-34801980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199665762	chr11:34801981-34801982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200950252	chr11:34801982-34801983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528440478	chr11:34802024-34802025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189309455	chr11:34802025-34802026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114694780	chr11:34802081-34802082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12803711	chr11:34802095-34802096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529859094	chr11:34802104-34802105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372132584	chr11:34802123-34802124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370426998	chr11:34802204-34802205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180972304	chr11:34802234-34802235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141488223	chr11:34802289-34802290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538534452	chr11:34802292-34802293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150876229	chr11:34802347-34802348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565540750	chr11:34802373-34802374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117537535	chr11:34802377-34802378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7945498	chr11:34802387-34802388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34787600-34805600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:34792200-34811000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:34801200-34804600	Weak transcription	HepG2	liver
4	chr11:34801800-34803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:34802600-34802800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:34802800-34811200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:34803800-34804000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr11:34804000-34811000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:34804600-34804800	Enhancers	HepG2	liver
10	chr11:34804800-34805200	Enhancers	Liver	Liver
11	chr11:34804800-34805800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr11:34804800-34806600	Flanking Active TSS	HepG2	liver
13	chr11:34805000-34806400	Enhancers	Stomach Mucosa	stomach

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