Variant report

Variant	esv3463708
Chromosome Location	chr11:86285962-86286723
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	chr11:86285976..86287836-chr11:86291866..86294445,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376430033	chr11:86285962-86285963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531151077	chr11:86285963-86285964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370392363	chr11:86285964-86285965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145669144	chr11:86286009-86286010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371364505	chr11:86286023-86286024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147654574	chr11:86286108-86286109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561396820	chr11:86286169-86286170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149151449	chr11:86286181-86286182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552315578	chr11:86286195-86286196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565752587	chr11:86286258-86286259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4144867	chr11:86286401-86286402	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79053504	chr11:86286412-86286413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142338581	chr11:86286461-86286462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151283698	chr11:86286495-86286496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571421116	chr11:86286553-86286554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576857819	chr11:86286565-86286566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545766467	chr11:86286616-86286617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368370554	chr11:86286641-86286642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140275982	chr11:86286683-86286684	Weak transcription Enhancers	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86263400-86288200	Weak transcription	Aorta	Aorta
2	chr11:86271000-86291200	Weak transcription	Gastric	stomach
3	chr11:86275400-86299400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:86276400-86299800	Weak transcription	Fetal Brain Male	brain
5	chr11:86277400-86287400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:86277400-86287600	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:86277400-86289400	Weak transcription	Brain Anterior Caudate	brain
8	chr11:86279000-86289000	Weak transcription	NHEK	skin
9	chr11:86279800-86288000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:86281400-86289200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:86282000-86286000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:86282000-86288200	Weak transcription	Colonic Mucosa	Colon
13	chr11:86282000-86288400	Weak transcription	Fetal Intestine Small	intestine
14	chr11:86282400-86287600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:86283400-86289400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:86283400-86289400	Weak transcription	Stomach Mucosa	stomach
17	chr11:86283600-86288200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:86285000-86286000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:86285000-86288800	Enhancers	HUVEC	blood vessel
20	chr11:86285200-86286200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:86285400-86286200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:86285400-86286200	Enhancers	Fetal Muscle Leg	muscle
23	chr11:86285400-86286800	Enhancers	NHDF-Ad	bronchial
24	chr11:86285400-86287000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:86285400-86288400	Enhancers	A549	lung
26	chr11:86285400-86288800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:86285400-86288800	Enhancers	Right Atrium	heart
28	chr11:86285600-86286000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr11:86285600-86286000	Enhancers	Adipose Nuclei	Adipose
30	chr11:86285600-86286000	Enhancers	Right Ventricle	heart
31	chr11:86285600-86286200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr11:86285600-86286200	Enhancers	Fetal Stomach	stomach
33	chr11:86285600-86286200	Enhancers	Left Ventricle	heart
34	chr11:86285600-86286200	Enhancers	Lung	lung
35	chr11:86285600-86286200	Enhancers	Ovary	ovary
36	chr11:86285600-86286200	Enhancers	Pancreas	Pancrea
37	chr11:86285600-86286200	Enhancers	NHLF	lung
38	chr11:86285600-86286400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:86285600-86286400	Enhancers	Fetal Heart	heart
40	chr11:86285600-86286400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:86285600-86288600	Enhancers	Spleen	Spleen
42	chr11:86285600-86288800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:86285600-86289400	Enhancers	NH-A	brain
44	chr11:86285600-86290600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr11:86285800-86286000	Weak transcription	Psoas Muscle	Psoas
46	chr11:86285800-86286600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:86285800-86287000	Weak transcription	Hela-S3	cervix
48	chr11:86285800-86287000	Enhancers	Osteobl	bone
49	chr11:86285800-86287400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:86285800-86287400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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