Variant report

Variant	nsv527555
Chromosome Location	chr11:106895032-106971481
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:106906032..106908354-chr11:106914189..106916084,2	K562	blood:
2	chr11:106592230..106592824-chr11:106908108..106908648,2	MCF-7	breast:
3	chr11:106910257..106912381-chr11:106915669..106917473,2	K562	blood:
4	chr11:106932312..106934730-chr11:106954897..106957174,2	K562	blood:
5	chr11:106026692..106027307-chr11:106907920..106908482,2	MCF-7	breast:
6	chr11:106911495..106914022-chr11:106918490..106920093,2	K562	blood:
7	chr11:106911495..106914022-chr11:106918490..106920093,2	K562	blood:
8	chr11:106892703..106895618-chr11:106895753..106897563,2	K562	blood:
9	chr11:106906032..106908354-chr11:106914189..106916084,2	K562	blood:
10	chr11:105958730..105959235-chr11:106907710..106908538,2	K562	blood:
11	chr11:106932312..106934730-chr11:106954897..106957174,2	K562	blood:
12	chr11:106910257..106912381-chr11:106915669..106917473,2	K562	blood:
13	chr11:106892703..106895618-chr11:106895753..106897563,2	K562	blood:
14	chr11:106897061..106899298-chr11:106900848..106903030,2	K562	blood:
15	chr11:106888538..106891108-chr11:106896983..106899204,2	K562	blood:
16	chr11:106897971..106898911-chr8:146131253..146132091,2	MCF-7	breast:
17	chr11:106897061..106899298-chr11:106900848..106903030,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000152402	chromatin interactions

Extended variants
information (count: 466 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2445104	chr11:106897013-106897014	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181800006	chr11:106897166-106897167	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554357400	chr11:106897173-106897174	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78283994	chr11:106897186-106897187	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs7933170	chr11:106897194-106897195	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576682846	chr11:106897260-106897261	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141592434	chr11:106897404-106897405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75728691	chr11:106897429-106897430	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147056182	chr11:106897439-106897440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569254042	chr11:106897458-106897459	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12272522	chr11:106897514-106897515	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs113795858	chr11:106897532-106897533	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs184879542	chr11:106897583-106897584	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566930936	chr11:106897588-106897589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534052141	chr11:106897608-106897609	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111371420	chr11:106897677-106897678	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574524927	chr11:106897711-106897712	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs180793588	chr11:106897745-106897746	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557284031	chr11:106897835-106897836	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575618466	chr11:106897970-106897971	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545767053	chr11:106897984-106897985	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs186096313	chr11:106897985-106897986	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10789558	chr11:106898023-106898024	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs72998332	chr11:106898063-106898064	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561845216	chr11:106898087-106898088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529460635	chr11:106898098-106898099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs372580400	chr11:106898121-106898122	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2462410	chr11:106898141-106898142	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs2124303	chr11:106898175-106898176	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191296455	chr11:106898176-106898177	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551330234	chr11:106898182-106898183	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs151071578	chr11:106898193-106898194	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181344868	chr11:106898239-106898240	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555578455	chr11:106898241-106898242	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567789407	chr11:106898243-106898244	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569713300	chr11:106898245-106898246	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113491001	chr11:106898248-106898249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2462411	chr11:106898264-106898265	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370467654	chr11:106898416-106898417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575581725	chr11:106898432-106898433	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546133479	chr11:106898433-106898434	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs186769036	chr11:106898435-106898436	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs572726524	chr11:106898492-106898493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs897442	chr11:106898591-106898592	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs533661043	chr11:106898665-106898666	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12274547	chr11:106898686-106898687	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs573686221	chr11:106898691-106898692	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368429723	chr11:106898707-106898708	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544373017	chr11:106898712-106898713	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs58110753	chr11:106898778-106898779	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Renal cell carcinoma	18194544	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
Intellectual disability	21811512	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	21668985	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106911200-106911600	Active TSS	Fetal Heart	heart
2	chr11:106911200-106912000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:106911200-106912000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:106911200-106912200	ZNF genes & repeats	GM12878-XiMat	blood
5	chr11:106911200-106912800	Enhancers	NH-A	brain
6	chr11:106911400-106911600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr11:106911400-106911600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:106911400-106912000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:106911400-106912000	Enhancers	Brain Cingulate Gyrus	brain
10	chr11:106911400-106912000	Active TSS	Brain Hippocampus Middle	brain
11	chr11:106911400-106912000	Active TSS	Brain Substantia Nigra	brain
12	chr11:106911600-106911800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:106911600-106912000	Enhancers	HMEC	breast
14	chr11:106911600-106912200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:106911600-106912600	Enhancers	HSMM	muscle
16	chr11:106911800-106912400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:106912000-106913400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:106912000-106913400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:106912000-106913400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:106912000-106913400	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:106912000-106913400	Weak transcription	Brain Substantia Nigra	brain
22	chr11:106912000-106913600	Weak transcription	HMEC	breast
23	chr11:106912200-106912400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr11:106912200-106913400	Weak transcription	GM12878-XiMat	blood
25	chr11:106912400-106913400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:106912400-106913600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:106912600-106913400	Weak transcription	HSMM	muscle
28	chr11:106912800-106913200	Weak transcription	NH-A	brain
29	chr11:106913200-106914000	Enhancers	NH-A	brain
30	chr11:106913400-106913600	Enhancers	HSMMtube	muscle
31	chr11:106913400-106913800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr11:106913400-106913800	Active TSS	Fetal Brain Male	brain
33	chr11:106913400-106914000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:106913400-106914000	Enhancers	Brain Angular Gyrus	brain
35	chr11:106913400-106914600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:106913400-106914600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:106913400-106914600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:106913400-106914600	Enhancers	Brain Anterior Caudate	brain
39	chr11:106913400-106914600	Enhancers	Brain Hippocampus Middle	brain
40	chr11:106913400-106914600	Enhancers	Brain Substantia Nigra	brain
41	chr11:106913400-106914600	Enhancers	GM12878-XiMat	blood
42	chr11:106913400-106914800	Enhancers	NHLF	lung
43	chr11:106913400-106915000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:106913400-106915200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:106913400-106915200	Enhancers	Fetal Lung	lung
46	chr11:106913400-106915400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:106913400-106915800	Enhancers	HSMM	muscle
48	chr11:106913600-106913800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:106913600-106913800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:106913600-106913800	Flanking Active TSS	HSMMtube	muscle

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