Variant report

Variant	esv1798558
Chromosome Location	chr11:93671838-93688514
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	chr11:93680099..93683642-chr11:93684474..93688848,4	K562	blood:
3	chr11:93687985..93689849-chr11:93692203..93693783,2	K562	blood:
4	chr1:145200270..145202766-chr11:93677416..93679121,2	K562	blood:
5	chr11:93684701..93687298-chr11:93690286..93693320,3	K562	blood:

Variant related genes	Relation type
ENSG00000272709	chromatin interactions

Extended variants
information (count: 508 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11020605	chr11:93671838-93671839	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35579191	chr11:93671877-93671878	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576091482	chr11:93671883-93671884	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537140188	chr11:93671966-93671967	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs189702484	chr11:93671982-93671983	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs573532643	chr11:93672087-93672088	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559907220	chr11:93672116-93672117	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs553267446	chr11:93672154-93672155	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs577931393	chr11:93672175-93672176	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs536463332	chr11:93672184-93672185	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs114596590	chr11:93672305-93672306	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs111585372	chr11:93672311-93672312	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563486091	chr11:93672316-93672317	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs182325055	chr11:93672331-93672332	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs74444942	chr11:93672351-93672352	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs74893607	chr11:93672362-93672363	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs12288994	chr11:93672372-93672373	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs187894148	chr11:93672379-93672380	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs546905110	chr11:93672394-93672395	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs571581170	chr11:93672411-93672412	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs375354973	chr11:93672441-93672442	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs540970930	chr11:93672472-93672473	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs371683065	chr11:93672478-93672479	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs532645774	chr11:93672497-93672498	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs113425628	chr11:93672504-93672505	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs569430639	chr11:93672587-93672588	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs536750043	chr11:93672590-93672591	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs77660816	chr11:93672627-93672628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567164510	chr11:93672672-93672673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556322211	chr11:93672679-93672680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78582072	chr11:93672772-93672773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149158663	chr11:93672794-93672795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75321901	chr11:93672825-93672826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528594924	chr11:93672862-93672863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578022728	chr11:93672892-93672893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367804397	chr11:93672909-93672910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143255768	chr11:93672930-93672931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34699227	chr11:93672936-93672937	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376288361	chr11:93672946-93672947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542765359	chr11:93672960-93672961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557098440	chr11:93672984-93672985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139615698	chr11:93673003-93673004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370506589	chr11:93673006-93673007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376152354	chr11:93673012-93673013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7940719	chr11:93673086-93673087	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528488643	chr11:93673093-93673094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527552866	chr11:93673137-93673138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61904842	chr11:93673157-93673158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs118143584	chr11:93673158-93673159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560008803	chr11:93673162-93673163	Enhancers	n/a	n/a	Overlapped CNVs	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93671200-93675600	Enhancers	HMEC	breast
2	chr11:93671400-93672200	Enhancers	NHEK	skin
3	chr11:93671600-93672200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:93671600-93675600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:93671800-93672600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:93672000-93672400	Enhancers	NH-A	brain
7	chr11:93672000-93673400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:93672000-93673400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:93672200-93672600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
10	chr11:93672200-93672600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:93672200-93672600	Flanking Active TSS	NHEK	skin
12	chr11:93672200-93673200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:93672600-93674800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:93672600-93675400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:93672600-93675600	Enhancers	NHEK	skin
16	chr11:93673400-93674800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:93674200-93675200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr11:93674800-93675400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:93675400-93678600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:93675600-93678400	Weak transcription	HMEC	breast
21	chr11:93675600-93678600	Weak transcription	NHEK	skin
22	chr11:93678400-93678600	Enhancers	HSMMtube	muscle
23	chr11:93678400-93678800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:93678400-93679000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:93678400-93679200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:93678400-93679200	Enhancers	HMEC	breast
27	chr11:93678600-93678800	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:93678600-93678800	Flanking Active TSS	HSMM	muscle
29	chr11:93678600-93679000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr11:93678600-93679000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:93678600-93679000	Flanking Active TSS	HSMMtube	muscle
32	chr11:93678600-93679000	Bivalent Enhancer	Osteobl	bone
33	chr11:93678600-93679200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:93678600-93679200	Enhancers	NHEK	skin
35	chr11:93678800-93679000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:93678800-93679000	Enhancers	NH-A	brain
37	chr11:93678800-93679200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:93678800-93679200	Enhancers	HSMM	muscle
39	chr11:93679000-93679200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:93679000-93679200	Enhancers	HSMMtube	muscle
41	chr11:93679000-93681400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:93679000-93681600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:93679200-93681400	Weak transcription	HMEC	breast
44	chr11:93679200-93681400	Weak transcription	NHEK	skin
45	chr11:93679200-93681600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:93679200-93681600	Weak transcription	HSMM	muscle
47	chr11:93679200-93681800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:93679200-93681800	Weak transcription	HSMMtube	muscle
49	chr11:93681400-93681600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:93681400-93682400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links