Variant report

Variant	esv2155618
Chromosome Location	chr11:85251543-85251544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 79 )

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	rs2081445	chr11:85251543-85251544	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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	17899364	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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	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
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
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85248800-85251600	Weak transcription	Lung	lung
2	chr11:85248800-85252600	Weak transcription	Pancreas	Pancrea
3	chr11:85248800-85292000	Weak transcription	Aorta	Aorta
4	chr11:85249800-85252000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr11:85250000-85251800	Enhancers	HSMMtube	muscle
6	chr11:85250000-85252000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr11:85250000-85252200	Enhancers	Fetal Muscle Leg	muscle
8	chr11:85250200-85251600	Enhancers	Fetal Heart	heart
9	chr11:85250400-85253800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:85250600-85253000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:85250800-85251600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:85250800-85252000	Enhancers	Left Ventricle	heart
13	chr11:85250800-85252000	Enhancers	Right Atrium	heart
14	chr11:85250800-85253600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:85250800-85253600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:85251000-85251800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:85251000-85252000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr11:85251000-85252000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:85251000-85252000	Enhancers	Fetal Muscle Trunk	muscle
20	chr11:85251000-85252000	Enhancers	Right Ventricle	heart
21	chr11:85251000-85252200	Enhancers	Ovary	ovary
22	chr11:85251000-85252600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr11:85251000-85253400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr11:85251000-85253600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr11:85251000-85253800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr11:85251200-85251600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:85251200-85252000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:85251200-85253800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:85251200-85254000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:85251400-85251800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr11:85251400-85251800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:85251400-85251800	Enhancers	Brain Hippocampus Middle	brain
33	chr11:85251400-85252000	Enhancers	Colon Smooth Muscle	Colon
34	chr11:85251400-85253000	Enhancers	HUES48 Cell Line	embryonic stem cell

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