Variant report

Variant	nsv518332
Chromosome Location	chr11:86889284-86891077
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: 79 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1948206	chr11:86889284-86889285	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112565332	chr11:86889299-86889300	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546355133	chr11:86889311-86889312	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549592520	chr11:86889337-86889338	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11235005	chr11:86889351-86889352	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs368146298	chr11:86889393-86889394	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377653857	chr11:86889419-86889420	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372917436	chr11:86889440-86889441	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375654087	chr11:86889443-86889444	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4944672	chr11:86889448-86889449	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547610373	chr11:86889455-86889456	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570543678	chr11:86889483-86889484	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539035161	chr11:86889518-86889519	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374482221	chr11:86889560-86889561	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4944673	chr11:86889612-86889613	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4944674	chr11:86889621-86889622	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs151030580	chr11:86889652-86889653	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555118856	chr11:86889669-86889670	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575128788	chr11:86889754-86889755	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372269404	chr11:86889803-86889804	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80018420	chr11:86889811-86889812	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4944675	chr11:86889812-86889813	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12794107	chr11:86889831-86889832	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs4944676	chr11:86889833-86889834	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs529560401	chr11:86889907-86889908	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116888620	chr11:86889920-86889921	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185045576	chr11:86889970-86889971	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140961936	chr11:86889981-86889982	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55731905	chr11:86889985-86889986	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570410905	chr11:86889988-86889989	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs301573	chr11:86889990-86889991	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs58742345	chr11:86890002-86890003	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397808703	chr11:86890011-86890012	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150195675	chr11:86890042-86890043	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75750548	chr11:86890084-86890085	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548076	chr11:86890088-86890089	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs555206514	chr11:86890089-86890090	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147891222	chr11:86890120-86890121	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61330669	chr11:86890164-86890165	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536846478	chr11:86890165-86890166	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537600408	chr11:86890175-86890176	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189890704	chr11:86890183-86890184	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578029315	chr11:86890184-86890185	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117328917	chr11:86890187-86890188	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549942533	chr11:86890219-86890220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569694066	chr11:86890226-86890227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181111564	chr11:86890256-86890257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574013568	chr11:86890295-86890296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373771051	chr11:86890314-86890315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550773	chr11:86890340-86890341	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:77 , 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	chr11:86881800-86891000	Weak transcription	Thymus	Thymus
4	chr11:86882000-86928000	Weak transcription	Left Ventricle	heart
5	chr11:86884400-86891400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:86884600-86896600	Weak transcription	Fetal Kidney	kidney
7	chr11:86884600-86899200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:86884800-86901200	Weak transcription	K562	blood
9	chr11:86885000-86892000	Weak transcription	Brain Substantia Nigra	brain
10	chr11:86885000-86893200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:86885000-86902200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:86885200-86890800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:86885200-86891800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:86885400-86891600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:86885800-86889600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:86885800-86891800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:86886200-86889600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:86886200-86894800	Weak transcription	Fetal Heart	heart
19	chr11:86886400-86896600	Weak transcription	Adipose Nuclei	Adipose
20	chr11:86886600-86891000	Weak transcription	HSMMtube	muscle
21	chr11:86886600-86891600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:86886800-86890400	Weak transcription	HepG2	liver
23	chr11:86887400-86889600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:86887400-86891800	Weak transcription	Ovary	ovary
25	chr11:86887400-86899600	Weak transcription	NHDF-Ad	bronchial
26	chr11:86887600-86890000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:86887600-86890200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:86887600-86893800	Weak transcription	NHLF	lung
29	chr11:86887600-86909400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:86888000-86889400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:86888000-86891400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:86888400-86889400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:86888600-86889600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:86888600-86889800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:86888800-86889400	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr11:86888800-86889800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:86888800-86889800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:86888800-86889800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
39	chr11:86888800-86889800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr11:86888800-86889800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:86888800-86891600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:86889000-86889600	Strong transcription	Primary B cells from cord blood	blood
43	chr11:86889000-86889600	ZNF genes & repeats	A549	lung
44	chr11:86889000-86889800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:86889000-86889800	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr11:86889000-86891600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:86889200-86889800	ZNF genes & repeats	Fetal Lung	lung
48	chr11:86889200-86889800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
49	chr11:86889200-86890400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr11:86889200-86891800	Weak transcription	Stomach Smooth Muscle	stomach

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