Variant report

Variant	esv3360406
Chromosome Location	chr11:86396204-86398252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532755554	chr11:86396234-86396235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74831677	chr11:86396245-86396246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542042624	chr11:86396306-86396307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528991288	chr11:86396394-86396395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542674976	chr11:86396395-86396396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182535016	chr11:86396413-86396414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144547528	chr11:86396430-86396431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80323370	chr11:86396434-86396435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571606259	chr11:86396480-86396481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79916984	chr11:86396483-86396484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529841	chr11:86396484-86396485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567609008	chr11:86396495-86396496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536363257	chr11:86396507-86396508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556592840	chr11:86396510-86396511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531108510	chr11:86396515-86396516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12271882	chr11:86396522-86396523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538888106	chr11:86396541-86396542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558723943	chr11:86396549-86396550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572410433	chr11:86396568-86396569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186812999	chr11:86396572-86396573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528948	chr11:86396588-86396589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191280770	chr11:86396597-86396598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375201973	chr11:86396603-86396604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs66878934	chr11:86396612-86396613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs67655324	chr11:86396622-86396623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs148466794	chr11:86396627-86396628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545269419	chr11:86396632-86396633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74945957	chr11:86396656-86396657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77591187	chr11:86396664-86396665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547635891	chr11:86396670-86396671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116514289	chr11:86396689-86396690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141780239	chr11:86396746-86396747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183719654	chr11:86396754-86396755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550497971	chr11:86396791-86396792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538698761	chr11:86396804-86396805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7946239	chr11:86396820-86396821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552361627	chr11:86396858-86396859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150580750	chr11:86396859-86396860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565899126	chr11:86396893-86396894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200450855	chr11:86396903-86396904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535027458	chr11:86396913-86396914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201106899	chr11:86396921-86396922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115428350	chr11:86396930-86396931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575018796	chr11:86396933-86396934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536287856	chr11:86396940-86396941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10643780	chr11:86396949-86396950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs36015857	chr11:86396950-86396951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs675455	chr11:86396968-86396969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187994761	chr11:86396969-86396970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193248055	chr11:86396970-86396971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86384800-86397800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:86384800-86400400	Weak transcription	Gastric	stomach
3	chr11:86385200-86411400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:86386600-86431000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:86388000-86409600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:86389600-86397800	Weak transcription	Fetal Muscle Leg	muscle
7	chr11:86389800-86399600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:86390000-86403600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:86390200-86398600	Weak transcription	Osteobl	bone
10	chr11:86390200-86399800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:86390400-86398000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:86390400-86399800	Weak transcription	Fetal Kidney	kidney
13	chr11:86390600-86397800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:86391800-86399400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:86392200-86399600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:86393000-86397800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:86393000-86406800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:86393600-86397800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:86393600-86397800	Weak transcription	Fetal Lung	lung
20	chr11:86393600-86398000	Weak transcription	Fetal Heart	heart
21	chr11:86393600-86398200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:86393600-86399600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:86393600-86399800	Weak transcription	Aorta	Aorta
24	chr11:86393800-86397600	Weak transcription	Psoas Muscle	Psoas
25	chr11:86393800-86397800	Weak transcription	Ovary	ovary
26	chr11:86393800-86397800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:86393800-86399800	Weak transcription	Right Ventricle	heart
28	chr11:86393800-86400400	Weak transcription	Pancreas	Pancrea
29	chr11:86394000-86398000	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:86394400-86397800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:86394400-86399400	Weak transcription	Right Atrium	heart
32	chr11:86394600-86399400	Weak transcription	Left Ventricle	heart
33	chr11:86395200-86397600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:86397600-86397800	Weak transcription	HSMM	muscle
35	chr11:86397600-86398000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:86397600-86400600	Enhancers	Psoas Muscle	Psoas
37	chr11:86397800-86398000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:86397800-86398000	Enhancers	HSMM	muscle
39	chr11:86397800-86398400	Enhancers	Fetal Muscle Leg	muscle
40	chr11:86397800-86398400	Enhancers	Ovary	ovary
41	chr11:86397800-86398400	Enhancers	Stomach Smooth Muscle	stomach
42	chr11:86397800-86398600	Enhancers	Fetal Lung	lung
43	chr11:86397800-86398800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:86397800-86400200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:86397800-86400200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:86397800-86400600	Enhancers	HSMMtube	muscle
47	chr11:86397800-86400600	Enhancers	NHDF-Ad	bronchial
48	chr11:86397800-86400800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr11:86397800-86400800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr11:86398000-86398600	Weak transcription	HSMM	muscle

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