Variant report

Variant	nsv528940
Chromosome Location	chr11:86891077-86892865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86889371..86892096-chr11:86895507..86898091,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs589193	chr11:86891077-86891078	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74711312	chr11:86891079-86891080	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7946112	chr11:86891140-86891141	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541284987	chr11:86891187-86891188	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141669884	chr11:86891227-86891228	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77088083	chr11:86891232-86891233	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116802603	chr11:86891243-86891244	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146975012	chr11:86891247-86891248	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190756999	chr11:86891257-86891258	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs301574	chr11:86891259-86891260	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs386755857	chr11:86891268-86891269	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144020213	chr11:86891269-86891270	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568064749	chr11:86891287-86891288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547278240	chr11:86891332-86891333	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12796075	chr11:86891380-86891381	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7946467	chr11:86891398-86891399	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191603217	chr11:86891401-86891402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182944051	chr11:86891410-86891411	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576539818	chr11:86891420-86891421	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542575672	chr11:86891449-86891450	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535514974	chr11:86891514-86891515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185437444	chr11:86891615-86891616	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572649669	chr11:86891630-86891631	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs60980600	chr11:86891644-86891645	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189747762	chr11:86891658-86891659	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182174738	chr11:86891690-86891691	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377520528	chr11:86891731-86891732	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555216316	chr11:86891751-86891752	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561190200	chr11:86891823-86891824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573400918	chr11:86891844-86891845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76973696	chr11:86891895-86891896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562131002	chr11:86891899-86891900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531303077	chr11:86891928-86891929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551112680	chr11:86891931-86891932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565140069	chr11:86891943-86891944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187964539	chr11:86891960-86891961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76873504	chr11:86892029-86892030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527600460	chr11:86892035-86892036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537620786	chr11:86892058-86892059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116455707	chr11:86892101-86892102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567496699	chr11:86892108-86892109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115845852	chr11:86892243-86892244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193024806	chr11:86892299-86892300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12801194	chr11:86892325-86892326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146986851	chr11:86892336-86892337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370623493	chr11:86892338-86892339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12801212	chr11:86892341-86892342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554757	chr11:86892361-86892362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs570182658	chr11:86892391-86892392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183699182	chr11:86892400-86892401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	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	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86880600-86891800	Weak transcription	Aorta	Aorta
2	chr11:86880800-86892600	Weak transcription	Liver	Liver
3	chr11:86882000-86928000	Weak transcription	Left Ventricle	heart
4	chr11:86884400-86891400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:86884600-86896600	Weak transcription	Fetal Kidney	kidney
6	chr11:86884600-86899200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:86884800-86901200	Weak transcription	K562	blood
8	chr11:86885000-86892000	Weak transcription	Brain Substantia Nigra	brain
9	chr11:86885000-86893200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:86885000-86902200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:86885200-86891800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:86885400-86891600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:86885800-86891800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:86886200-86894800	Weak transcription	Fetal Heart	heart
15	chr11:86886400-86896600	Weak transcription	Adipose Nuclei	Adipose
16	chr11:86886600-86891600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:86887400-86891800	Weak transcription	Ovary	ovary
18	chr11:86887400-86899600	Weak transcription	NHDF-Ad	bronchial
19	chr11:86887600-86893800	Weak transcription	NHLF	lung
20	chr11:86887600-86909400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:86888000-86891400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:86888800-86891600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:86889000-86891600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:86889200-86891800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:86889400-86899600	Weak transcription	Primary T cells from cord blood	blood
26	chr11:86889600-86891800	Weak transcription	A549	lung
27	chr11:86889600-86899200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:86889800-86891400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:86889800-86893000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:86889800-86893000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:86889800-86893400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:86889800-86897400	Weak transcription	Fetal Intestine Small	intestine
33	chr11:86889800-86897800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:86889800-86898400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:86889800-86905200	Weak transcription	Fetal Lung	lung
36	chr11:86890200-86891800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:86890200-86919000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:86890800-86891600	Enhancers	Psoas Muscle	Psoas
39	chr11:86891000-86892600	Enhancers	HSMMtube	muscle
40	chr11:86891000-86897400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:86891000-86914200	Weak transcription	HepG2	liver
42	chr11:86891400-86892600	Enhancers	Rectal Smooth Muscle	rectum
43	chr11:86891600-86891800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:86891600-86892200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:86891600-86892200	Enhancers	Colon Smooth Muscle	Colon
46	chr11:86891600-86892600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:86891800-86892000	Enhancers	Aorta	Aorta
48	chr11:86891800-86892200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr11:86891800-86892200	Enhancers	Stomach Smooth Muscle	stomach
50	chr11:86891800-86892600	Enhancers	A549	lung

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