Variant report

Variant	esv1534101
Chromosome Location	chr11:73411669-73411672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 101 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568093211	chr11:73411669-73411670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73374400-73427200	Weak transcription	A549	lung
2	chr11:73375800-73416200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:73382200-73436000	Weak transcription	Small Intestine	intestine
4	chr11:73382200-73441200	Weak transcription	Stomach Mucosa	stomach
5	chr11:73382400-73421600	Weak transcription	Gastric	stomach
6	chr11:73383400-73427200	Weak transcription	Fetal Heart	heart
7	chr11:73384000-73427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:73385000-73449800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:73389000-73445400	Weak transcription	Fetal Brain Male	brain
10	chr11:73389200-73416800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:73389200-73427400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:73389200-73440200	Weak transcription	Right Ventricle	heart
13	chr11:73390800-73429600	Weak transcription	NHLF	lung
14	chr11:73391000-73433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:73394400-73430200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:73395600-73416200	Weak transcription	Brain Anterior Caudate	brain
17	chr11:73395800-73412600	Weak transcription	Thymus	Thymus
18	chr11:73396000-73411800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:73396000-73448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr11:73397800-73426600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:73399000-73412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:73399600-73412400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:73400000-73416200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:73400200-73414600	Weak transcription	Ovary	ovary
25	chr11:73400400-73449400	Weak transcription	Psoas Muscle	Psoas
26	chr11:73400600-73412600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:73400600-73412800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:73400600-73412800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:73400600-73412800	Weak transcription	Aorta	Aorta
30	chr11:73400600-73421600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:73400800-73412200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:73400800-73416200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:73400800-73422000	Weak transcription	Spleen	Spleen
34	chr11:73401000-73412600	Weak transcription	Esophagus	oesophagus
35	chr11:73401000-73412800	Weak transcription	HUVEC	blood vessel
36	chr11:73401000-73416400	Weak transcription	Fetal Kidney	kidney
37	chr11:73401200-73412200	Weak transcription	GM12878-XiMat	blood
38	chr11:73402000-73422200	Weak transcription	Hela-S3	cervix
39	chr11:73402600-73412600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:73404400-73420200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:73404400-73424200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:73404400-73427400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:73404800-73420400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:73405000-73412800	Weak transcription	Lung	lung
45	chr11:73405000-73421800	Weak transcription	Pancreas	Pancrea
46	chr11:73405200-73412000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr11:73405200-73414400	Weak transcription	Brain Germinal Matrix	brain
48	chr11:73405200-73416200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr11:73405200-73416800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:73405200-73429600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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