Variant report

Variant	esv13345
Chromosome Location	chr11:86753735-86756555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574207336	chr11:86753758-86753759	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201236980	chr11:86753762-86753763	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543020807	chr11:86753802-86753803	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150903672	chr11:86753805-86753806	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532042503	chr11:86753810-86753811	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546054891	chr11:86753811-86753812	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369870347	chr11:86753813-86753814	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559433770	chr11:86753910-86753911	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2512499	chr11:86753948-86753949	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548411980	chr11:86753949-86753950	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568519447	chr11:86753987-86753988	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201655891	chr11:86753996-86753997	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538645430	chr11:86754001-86754002	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75818909	chr11:86754014-86754015	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76449824	chr11:86754015-86754016	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375927910	chr11:86754028-86754029	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562451895	chr11:86754038-86754039	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570809855	chr11:86754058-86754059	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539478405	chr11:86754059-86754060	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553629066	chr11:86754060-86754061	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566868361	chr11:86754061-86754062	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192065081	chr11:86754066-86754067	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555547179	chr11:86754068-86754069	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574158173	chr11:86754071-86754072	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543487671	chr11:86754080-86754081	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556804544	chr11:86754088-86754089	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138349108	chr11:86754122-86754123	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573238607	chr11:86754142-86754143	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368999068	chr11:86754154-86754155	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545520795	chr11:86754158-86754159	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559644218	chr11:86754159-86754160	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528397011	chr11:86754167-86754168	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2513217	chr11:86754168-86754169	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371927252	chr11:86754185-86754186	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184921635	chr11:86754186-86754187	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2513218	chr11:86754210-86754211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551032225	chr11:86754272-86754273	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570906814	chr11:86754279-86754280	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544420191	chr11:86754307-86754308	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188179990	chr11:86754339-86754340	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546687880	chr11:86754345-86754346	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566778750	chr11:86754347-86754348	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12788446	chr11:86754350-86754351	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149642436	chr11:86754354-86754355	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75103443	chr11:86754356-86754357	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2512372	chr11:86754362-86754363	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549299686	chr11:86754393-86754394	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192615500	chr11:86754399-86754400	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12788634	chr11:86754438-86754439	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538100667	chr11:86754497-86754498	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86749600-86754200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:86749600-86758200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:86749600-86766800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:86749800-86753800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:86750000-86756400	Weak transcription	Primary B cells from cord blood	blood
6	chr11:86750000-86765800	Weak transcription	Placenta	Placenta
7	chr11:86750400-86754000	Weak transcription	Fetal Stomach	stomach
8	chr11:86750400-86760600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr11:86750600-86754800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:86750600-86755400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr11:86750600-86755600	Weak transcription	Fetal Intestine Small	intestine
12	chr11:86750600-86755600	Weak transcription	Right Ventricle	heart
13	chr11:86750600-86756400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:86750600-86757600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:86750600-86757800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:86750600-86757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:86750600-86757800	Weak transcription	Fetal Intestine Large	intestine
18	chr11:86750600-86759800	Weak transcription	Fetal Thymus	thymus
19	chr11:86750600-86760600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:86750800-86754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:86750800-86754200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:86750800-86755000	Weak transcription	NHEK	skin
23	chr11:86750800-86757200	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:86750800-86757800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:86750800-86758600	Weak transcription	HSMM	muscle
26	chr11:86750800-86759800	Weak transcription	HSMMtube	muscle
27	chr11:86750800-86760000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:86750800-86760200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:86750800-86780600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:86750800-86782000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:86750800-86787400	Weak transcription	A549	lung
32	chr11:86751000-86754400	Weak transcription	Brain Germinal Matrix	brain
33	chr11:86751000-86754800	Weak transcription	Primary T cells from cord blood	blood
34	chr11:86751000-86755000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:86751000-86755400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:86751000-86757000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:86751000-86757400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr11:86751000-86760000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:86751000-86786800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:86751000-86787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:86751200-86754200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:86751200-86754800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:86751200-86755000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:86751200-86756200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:86751200-86756600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr11:86751200-86757200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:86751200-86762600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:86751200-86785600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:86751400-86754400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:86751400-86756600	Weak transcription	Hela-S3	cervix

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