Variant report

Variant	esv988093
Chromosome Location	chr11:86583435-86587263
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	chr11:86577401..86581075-chr11:86581789..86584675,3	K562	blood:

Extended variants
information (count: 178 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184860390	chr11:86583441-86583442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2511883	chr11:86583442-86583443	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569433089	chr11:86583457-86583458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7118936	chr11:86583460-86583461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2508429	chr11:86583508-86583509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2508428	chr11:86583547-86583548	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs141807072	chr11:86583609-86583610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150593263	chr11:86583623-86583624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375842592	chr11:86583628-86583629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2508427	chr11:86583639-86583640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11234843	chr11:86583643-86583644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs117832965	chr11:86583666-86583667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117157336	chr11:86583668-86583669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537773207	chr11:86583690-86583691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558010033	chr11:86583730-86583731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577990020	chr11:86583734-86583735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189139832	chr11:86583743-86583744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2433446	chr11:86583749-86583750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs139448333	chr11:86583753-86583754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575408348	chr11:86583923-86583924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17149479	chr11:86584050-86584051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563094926	chr11:86584093-86584094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181573084	chr11:86584155-86584156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149246063	chr11:86584192-86584193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4944638	chr11:86584210-86584211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs200570303	chr11:86584220-86584221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532838059	chr11:86584232-86584233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201595575	chr11:86584239-86584240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111989090	chr11:86584240-86584241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4943963	chr11:86584241-86584242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374308354	chr11:86584245-86584246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11234844	chr11:86584257-86584258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7944431	chr11:86584259-86584260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11234845	chr11:86584266-86584267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368142419	chr11:86584277-86584278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570175257	chr11:86584289-86584290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61195398	chr11:86584290-86584291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182282248	chr11:86584291-86584292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368231921	chr11:86584296-86584297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148819106	chr11:86584298-86584299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372297404	chr11:86584311-86584312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374595305	chr11:86584319-86584320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12574122	chr11:86584327-86584328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34873529	chr11:86584328-86584329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12575234	chr11:86584329-86584330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538029822	chr11:86584334-86584335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200857689	chr11:86584336-86584337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557813677	chr11:86584338-86584339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185719843	chr11:86584340-86584341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139607836	chr11:86584355-86584356	Weak transcription	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
Breast cancer	22522925	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86562600-86585800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:86563200-86598800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:86566800-86585800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:86576800-86599800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:86578200-86593400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:86578200-86627400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:86578400-86585400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:86580600-86583800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:86581000-86585000	Weak transcription	HSMMtube	muscle
10	chr11:86581200-86585200	Weak transcription	HSMM	muscle
11	chr11:86581600-86584600	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:86581600-86585400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:86581600-86588000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:86582000-86584000	Enhancers	Ovary	ovary
15	chr11:86582400-86583600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:86582800-86589600	Weak transcription	Aorta	Aorta
17	chr11:86582800-86601600	Weak transcription	Left Ventricle	heart
18	chr11:86583200-86599200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:86583200-86599200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:86583400-86584000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:86583600-86584600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:86584000-86584400	Weak transcription	Ovary	ovary
23	chr11:86584400-86584600	Enhancers	Ovary	ovary
24	chr11:86584600-86584800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:86584600-86586200	Enhancers	Fetal Muscle Leg	muscle
26	chr11:86584600-86597000	Weak transcription	Ovary	ovary
27	chr11:86585000-86586000	Enhancers	HSMMtube	muscle
28	chr11:86585200-86586800	Enhancers	HSMM	muscle
29	chr11:86585400-86585800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:86585400-86586000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:86585800-86586000	Enhancers	Fetal Muscle Trunk	muscle
32	chr11:86585800-86586200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:86585800-86586200	Enhancers	K562	blood
34	chr11:86585800-86587600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:86586000-86586600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr11:86586000-86587600	Weak transcription	HSMMtube	muscle
37	chr11:86586200-86587200	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:86586200-86588000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:86586800-86588000	Weak transcription	HSMM	muscle
40	chr11:86587200-86587400	Enhancers	Fetal Muscle Leg	muscle

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