Variant report

Variant	esv2761715
Chromosome Location	chr11:121073605-121083183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:121081943..121084419-chr11:121095777..121097754,2	K562	blood:
2	chr11:121073176..121075427-chr11:121076496..121078905,2	K562	blood:
3	chr11:121080419..121082596-chr11:121092605..121094400,2	K562	blood:
4	chr11:121073176..121075427-chr11:121076496..121078905,2	K562	blood:

Extended variants
information (count: 201 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183632192	chr11:121075659-121075660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575768321	chr11:121075681-121075682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189014794	chr11:121075721-121075722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79833470	chr11:121075750-121075751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117986469	chr11:121075781-121075782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538279905	chr11:121076808-121076809	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs373184331	chr11:121076819-121076820	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs76719908	chr11:121076820-121076821	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs569496719	chr11:121076830-121076831	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs199820111	chr11:121076895-121076896	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs142912903	chr11:121076896-121076897	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs58551001	chr11:121076897-121076898	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs398097871	chr11:121076900-121076901	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs614634	chr11:121076938-121076939	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs376746227	chr11:121076974-121076975	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs509058	chr11:121077211-121077212	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570885554	chr11:121077225-121077226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191042897	chr11:121077236-121077237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559130523	chr11:121077316-121077317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577289929	chr11:121077321-121077322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544329155	chr11:121077356-121077357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74236045	chr11:121077362-121077363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377061587	chr11:121077365-121077366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs612804	chr11:121077373-121077374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542907820	chr11:121077406-121077407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560890682	chr11:121077426-121077427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575042927	chr11:121077433-121077434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528283592	chr11:121077448-121077449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546271957	chr11:121077457-121077458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564665979	chr11:121077474-121077475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71486361	chr11:121077485-121077486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531977571	chr11:121077492-121077493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77159367	chr11:121077523-121077524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568838615	chr11:121077689-121077690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536517691	chr11:121077709-121077710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548881189	chr11:121077717-121077718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567056451	chr11:121077753-121077754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375130393	chr11:121077768-121077769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534425206	chr11:121077797-121077798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200458776	chr11:121077809-121077810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74236047	chr11:121077823-121077824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59976776	chr11:121077849-121077850	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181783342	chr11:121077876-121077877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145687634	chr11:121078106-121078107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575309043	chr11:121078187-121078188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376968287	chr11:121078232-121078233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556235543	chr11:121078384-121078385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574796143	chr11:121078386-121078387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542521437	chr11:121078408-121078409	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs147737054	chr11:121078410-121078411	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
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
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121075600-121075800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:121076800-121077000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:121076800-121077000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
4	chr11:121076800-121077800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:121077000-121077600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr11:121077000-121077600	Enhancers	Fetal Kidney	kidney
7	chr11:121077000-121077800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:121077000-121078600	Enhancers	HSMMtube	muscle
9	chr11:121077600-121078000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:121077800-121078000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:121077800-121084000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:121078000-121078800	Enhancers	Liver	Liver
13	chr11:121078000-121079200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:121078000-121079400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:121078200-121078400	Enhancers	GM12878-XiMat	blood
16	chr11:121078200-121078600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:121078400-121078600	Flanking Active TSS	GM12878-XiMat	blood
18	chr11:121078600-121078800	Enhancers	GM12878-XiMat	blood
19	chr11:121078600-121083200	Weak transcription	HSMMtube	muscle
20	chr11:121078800-121084000	Weak transcription	Liver	Liver
21	chr11:121079200-121082400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:121079400-121080400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:121080400-121080600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:121080400-121080600	Bivalent Enhancer	GM12878-XiMat	blood
25	chr11:121080600-121081000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:121081000-121081400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:121081200-121081600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:121081400-121081600	Enhancers	GM12878-XiMat	blood
29	chr11:121081600-121083200	Weak transcription	GM12878-XiMat	blood
30	chr11:121082400-121082600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:121082400-121082600	Enhancers	Fetal Heart	heart
32	chr11:121082400-121084200	Enhancers	HSMM	muscle
33	chr11:121082600-121083400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:121082600-121083400	Enhancers	Brain Germinal Matrix	brain
35	chr11:121082600-121083800	Weak transcription	Fetal Heart	heart
36	chr11:121083000-121084000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:121083000-121084000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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