Variant report

Variant	esv3485561
Chromosome Location	chr11:32388235-32392721
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	chr11:32392237..32394630-chr11:32604009..32606559,2	K562	blood:

Variant related genes	Relation type
ENSG00000149100	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185345641	chr11:32388240-32388241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577894315	chr11:32388260-32388261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115258957	chr11:32388280-32388281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs57722468	chr11:32388313-32388314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529211145	chr11:32388327-32388328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542963110	chr11:32388412-32388413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562763864	chr11:32388436-32388437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531663626	chr11:32388463-32388464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368043239	chr11:32388482-32388483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551448506	chr11:32388488-32388489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56911719	chr11:32388502-32388503	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs527876296	chr11:32388539-32388540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549189569	chr11:32388555-32388556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576708466	chr11:32388576-32388577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367703434	chr11:32388579-32388580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373643044	chr11:32388585-32388586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150628826	chr11:32388619-32388620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58736369	chr11:32388627-32388628	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189923503	chr11:32388635-32388636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555313823	chr11:32388636-32388637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575852923	chr11:32388677-32388678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs58222320	chr11:32388682-32388683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552693907	chr11:32388697-32388698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117209163	chr11:32388748-32388749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577857460	chr11:32388752-32388753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540418570	chr11:32388781-32388782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111884735	chr11:32388797-32388798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541181174	chr11:32389620-32389621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191495387	chr11:32389652-32389653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149023207	chr11:32389678-32389679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141038715	chr11:32389679-32389680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530794964	chr11:32389739-32389740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182590832	chr11:32389753-32389754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117022287	chr11:32389818-32389819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7118515	chr11:32389847-32389848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551220909	chr11:32389943-32389944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551347117	chr11:32389993-32389994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142064233	chr11:32389996-32389997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554952809	chr11:32392244-32392245	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs6484573	chr11:32392251-32392252	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548901544	chr11:32392270-32392271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573961478	chr11:32392312-32392313	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548444962	chr11:32392343-32392344	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs7951745	chr11:32392395-32392396	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542611025	chr11:32392403-32392404	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537435576	chr11:32392431-32392432	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551007208	chr11:32392441-32392442	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570912149	chr11:32392472-32392473	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs79470491	chr11:32392476-32392477	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs61889205	chr11:32392482-32392483	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	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	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Wilms tumour	17204608	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	17440070	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32387800-32388600	Enhancers	Ovary	ovary
2	chr11:32388000-32388800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:32388200-32388600	Enhancers	Adipose Nuclei	Adipose
4	chr11:32388200-32388800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:32388200-32388800	Enhancers	HepG2	liver
6	chr11:32389600-32390000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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