Variant report

Variant	esv1149662
Chromosome Location	chr11:77628451-77628452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 87 )

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	rs398076053	chr11:77628451-77628452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Glioblastoma multiforme	21138945	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
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77577400-77630800	Weak transcription	Fetal Heart	heart
2	chr11:77583400-77670600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:77583400-77690000	Weak transcription	Colonic Mucosa	Colon
4	chr11:77591800-77650400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:77592800-77690000	Weak transcription	Small Intestine	intestine
6	chr11:77595800-77671000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:77597600-77629400	Weak transcription	Brain Germinal Matrix	brain
8	chr11:77597800-77629000	Weak transcription	Aorta	Aorta
9	chr11:77597800-77633800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:77597800-77644200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:77597800-77644400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:77597800-77669800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:77597800-77671000	Weak transcription	Fetal Brain Male	brain
14	chr11:77597800-77678200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:77597800-77690000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:77597800-77690000	Weak transcription	Esophagus	oesophagus
17	chr11:77597800-77690000	Weak transcription	Gastric	stomach
18	chr11:77601800-77629800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:77602000-77640600	Weak transcription	K562	blood
20	chr11:77602600-77644200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:77602800-77690000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:77603000-77637400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:77603200-77650200	Weak transcription	Fetal Brain Female	brain
24	chr11:77604800-77644200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:77612600-77637000	Weak transcription	Brain Anterior Caudate	brain
26	chr11:77614600-77629200	Weak transcription	Lung	lung
27	chr11:77614800-77638800	Weak transcription	Brain Angular Gyrus	brain
28	chr11:77614800-77700200	Weak transcription	Psoas Muscle	Psoas
29	chr11:77615000-77644200	Weak transcription	Spleen	Spleen
30	chr11:77615000-77656400	Weak transcription	Right Ventricle	heart
31	chr11:77615200-77637400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:77618200-77668200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:77618400-77629000	Weak transcription	Left Ventricle	heart
34	chr11:77618800-77629000	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:77618800-77635000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:77618800-77637200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:77618800-77644200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:77619000-77636600	Weak transcription	Placenta	Placenta
39	chr11:77619000-77667000	Weak transcription	Fetal Kidney	kidney
40	chr11:77619000-77668000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:77619200-77637200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:77619200-77637400	Weak transcription	GM12878-XiMat	blood
43	chr11:77620800-77628600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:77620800-77642000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:77621800-77631200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr11:77622200-77630200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:77622200-77635600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:77622600-77636800	Weak transcription	Primary B cells from cord blood	blood
49	chr11:77622800-77634000	Weak transcription	Fetal Intestine Large	intestine
50	chr11:77625000-77630200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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