Variant report

Variant	esv3455064
Chromosome Location	chr11:107241267-107244115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107237489..107239255-chr11:107241546..107243344,2	K562	blood:
2	chr11:107241951..107244732-chr11:107327122..107328857,2	K562	blood:
3	chr11:107240491..107241393-chr16:2244600..2245300,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152404	chromatin interactions

Extended variants
information (count: 148 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11376850	chr11:107241275-107241276	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs397699928	chr11:107241287-107241288	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs200480457	chr11:107241288-107241289	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs561532460	chr11:107241322-107241323	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs531749974	chr11:107241364-107241365	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543408903	chr11:107241374-107241375	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs2432863	chr11:107241535-107241536	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs2508680	chr11:107241543-107241544	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs547845565	chr11:107241555-107241556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566349519	chr11:107241582-107241583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181059484	chr11:107241634-107241635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548874135	chr11:107241645-107241646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs584171	chr11:107241654-107241655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544539776	chr11:107241686-107241687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557770574	chr11:107241697-107241698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs489599	chr11:107241720-107241721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577136063	chr11:107241739-107241740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77144691	chr11:107241753-107241754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111870461	chr11:107241802-107241803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186568200	chr11:107241891-107241892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571207484	chr11:107241947-107241948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538384423	chr11:107241963-107241964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553876732	chr11:107241968-107241969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189879607	chr11:107241973-107241974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543206017	chr11:107242025-107242026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12800923	chr11:107242027-107242028	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs11212191	chr11:107242088-107242089	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528625933	chr11:107242112-107242113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs112976981	chr11:107242155-107242156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565161341	chr11:107242172-107242173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371416895	chr11:107242174-107242175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537384153	chr11:107242178-107242179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs79402414	chr11:107242213-107242214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs5794544	chr11:107242231-107242232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs397803860	chr11:107242237-107242238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559380224	chr11:107242256-107242257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs74700507	chr11:107242308-107242309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs5794545	chr11:107242309-107242310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs148324358	chr11:107242332-107242333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531110485	chr11:107242357-107242358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181771002	chr11:107242377-107242378	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs112556989	chr11:107242499-107242500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571069142	chr11:107242511-107242512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111711650	chr11:107242530-107242531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550027795	chr11:107242536-107242537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113663523	chr11:107242551-107242552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545429220	chr11:107242582-107242583	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571178740	chr11:107242609-107242610	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs538596438	chr11:107242625-107242626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547526281	chr11:107242656-107242657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	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
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107195000-107299200	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:107219800-107256400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:107221800-107258400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:107223000-107253000	Weak transcription	Liver	Liver
5	chr11:107223000-107253600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:107223000-107256400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:107223000-107260600	Weak transcription	Brain Anterior Caudate	brain
8	chr11:107223000-107260600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:107224000-107258400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:107224600-107249600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:107224600-107253400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:107225800-107250000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:107225800-107256400	Weak transcription	Adipose Nuclei	Adipose
14	chr11:107230000-107253400	Weak transcription	Lung	lung
15	chr11:107230200-107261400	Weak transcription	Ovary	ovary
16	chr11:107232200-107249600	Weak transcription	Primary T cells from cord blood	blood
17	chr11:107232400-107257800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr11:107239400-107253400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:107240600-107261800	Weak transcription	Fetal Lung	lung
20	chr11:107240800-107241600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:107240800-107241600	Enhancers	HSMMtube	muscle
22	chr11:107240800-107241800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:107241000-107241400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:107241000-107241600	Enhancers	NHEK	skin
25	chr11:107241000-107241800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:107241000-107253000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:107241200-107241400	Active TSS	GM12878-XiMat	blood
28	chr11:107241200-107241600	Enhancers	A549	lung
29	chr11:107241200-107241600	Enhancers	HUVEC	blood vessel
30	chr11:107241200-107241600	Enhancers	NH-A	brain
31	chr11:107241400-107241600	Enhancers	Fetal Kidney	kidney
32	chr11:107241600-107243000	Weak transcription	NHEK	skin
33	chr11:107241600-107261200	Weak transcription	Fetal Kidney	kidney
34	chr11:107241600-107327800	Weak transcription	HSMMtube	muscle
35	chr11:107241800-107246400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:107243000-107243200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:107243000-107243200	Enhancers	K562	blood
38	chr11:107243000-107243400	Enhancers	NHEK	skin
39	chr11:107243000-107244200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr11:107243000-107244200	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr11:107243200-107243400	Flanking Active TSS	K562	blood
42	chr11:107243200-107243600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:107243400-107243600	Active TSS	K562	blood
44	chr11:107243400-107244200	Active TSS	H1 Cell Line	embryonic stem cell
45	chr11:107243400-107254600	Weak transcription	NHEK	skin
46	chr11:107243600-107244000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:107243800-107267600	Weak transcription	Gastric	stomach
48	chr11:107244000-107244200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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