Variant report

Variant	esv1802534
Chromosome Location	chr11:93670388-93688541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93680099..93683642-chr11:93684474..93688848,4	K562	blood:
2	chr11:93684701..93687298-chr11:93690286..93693320,3	K562	blood:
3	chr1:145200270..145202766-chr11:93677416..93679121,2	K562	blood:
4	chr11:93680099..93683642-chr11:93684474..93688848,4	K562	blood:
5	chr11:93687985..93689849-chr11:93692203..93693783,2	K562	blood:

Variant related genes	Relation type
ENSG00000272709	chromatin interactions

Extended variants
information (count: 586 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:586 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2511376	chr11:93670388-93670389	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186099370	chr11:93670409-93670410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566206017	chr11:93670410-93670411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554383056	chr11:93670414-93670415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35377449	chr11:93670415-93670416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72327065	chr11:93670416-93670417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145115234	chr11:93670419-93670420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397789515	chr11:93670421-93670422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189333859	chr11:93670423-93670424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181864124	chr11:93670434-93670435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570063899	chr11:93670487-93670488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80037263	chr11:93670554-93670555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76846201	chr11:93670557-93670558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186935646	chr11:93670586-93670587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570908275	chr11:93670587-93670588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542764396	chr11:93670592-93670593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147349048	chr11:93670608-93670609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191357020	chr11:93670637-93670638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112659345	chr11:93670642-93670643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116739265	chr11:93670650-93670651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571840781	chr11:93670686-93670687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7123731	chr11:93670703-93670704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563784543	chr11:93670748-93670749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575584671	chr11:93670749-93670750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543709580	chr11:93670817-93670818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561799589	chr11:93670819-93670820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535040834	chr11:93670841-93670842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535753949	chr11:93670896-93670897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114552409	chr11:93670919-93670920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576294373	chr11:93670937-93670938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547311572	chr11:93670942-93670943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559579195	chr11:93670959-93670960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76383425	chr11:93670960-93670961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370337886	chr11:93670969-93670970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4753522	chr11:93671013-93671014	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181364578	chr11:93671014-93671015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4753523	chr11:93671101-93671102	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs2511375	chr11:93671117-93671118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567895289	chr11:93671149-93671150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535314663	chr11:93671197-93671198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553192884	chr11:93671258-93671259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147931049	chr11:93671260-93671261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116883138	chr11:93671267-93671268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539150648	chr11:93671278-93671279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546389150	chr11:93671285-93671286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560147751	chr11:93671290-93671291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140042924	chr11:93671316-93671317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576004680	chr11:93671348-93671349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2511374	chr11:93671355-93671356	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs72962832	chr11:93671406-93671407	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93669000-93670400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:93669400-93670400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:93669400-93670400	Enhancers	NHEK	skin
4	chr11:93669400-93671800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:93669600-93670400	Enhancers	Fetal Brain Male	brain
6	chr11:93670000-93671200	Weak transcription	HMEC	breast
7	chr11:93670400-93671400	Weak transcription	NHEK	skin
8	chr11:93670400-93671600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:93670400-93671600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:93670400-93671600	Weak transcription	Fetal Brain Male	brain
11	chr11:93671200-93675600	Enhancers	HMEC	breast
12	chr11:93671400-93672200	Enhancers	NHEK	skin
13	chr11:93671600-93672200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:93671600-93675600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:93671800-93672600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:93672000-93672400	Enhancers	NH-A	brain
17	chr11:93672000-93673400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:93672000-93673400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:93672200-93672600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
20	chr11:93672200-93672600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:93672200-93672600	Flanking Active TSS	NHEK	skin
22	chr11:93672200-93673200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:93672600-93674800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:93672600-93675400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:93672600-93675600	Enhancers	NHEK	skin
26	chr11:93673400-93674800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:93674200-93675200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:93674800-93675400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:93675400-93678600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:93675600-93678400	Weak transcription	HMEC	breast
31	chr11:93675600-93678600	Weak transcription	NHEK	skin
32	chr11:93678400-93678600	Enhancers	HSMMtube	muscle
33	chr11:93678400-93678800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:93678400-93679000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr11:93678400-93679200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:93678400-93679200	Enhancers	HMEC	breast
37	chr11:93678600-93678800	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:93678600-93678800	Flanking Active TSS	HSMM	muscle
39	chr11:93678600-93679000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr11:93678600-93679000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:93678600-93679000	Flanking Active TSS	HSMMtube	muscle
42	chr11:93678600-93679000	Bivalent Enhancer	Osteobl	bone
43	chr11:93678600-93679200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:93678600-93679200	Enhancers	NHEK	skin
45	chr11:93678800-93679000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:93678800-93679000	Enhancers	NH-A	brain
47	chr11:93678800-93679200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:93678800-93679200	Enhancers	HSMM	muscle
49	chr11:93679000-93679200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:93679000-93679200	Enhancers	HSMMtube	muscle

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