Variant report

Variant	esv2165235
Chromosome Location	chr11:75863554-75863555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75862934..75863810-chr11:75918354..75919268,2	K562	blood:
2	chr11:75607077..75608544-chr11:75862937..75863839,5	K562	blood:
3	chr11:75679377..75681059-chr11:75863070..75865584,2	MCF-7	breast:
4	chr11:75855694..75857259-chr11:75861740..75864650,2	K562	blood:
5	chr11:75862929..75863882-chr11:76029395..76030079,4	K562	blood:
6	chr11:75827427..75828061-chr11:75862929..75863644,2	MCF-7	breast:
7	chr11:75607508..75608588-chr11:75862991..75863892,5	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 98 )

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	rs4944089	chr11:75863554-75863555	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

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
Melanoma	18172304	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
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75833400-75872800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:75854200-75863600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:75862800-75863600	Bivalent Enhancer	Dnd41	blood
4	chr11:75862800-75863800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr11:75862800-75863800	Active TSS	Rectal Smooth Muscle	rectum
6	chr11:75862800-75864600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr11:75862800-75865000	Enhancers	Pancreas	Pancrea
8	chr11:75862800-75869200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:75863000-75863600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:75863000-75863600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:75863000-75863600	Active TSS	Brain Germinal Matrix	brain
12	chr11:75863000-75863600	Enhancers	Lung	lung
13	chr11:75863000-75863600	Flanking Active TSS	Hela-S3	cervix
14	chr11:75863000-75863800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr11:75863000-75863800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:75863000-75863800	Enhancers	Liver	Liver
17	chr11:75863000-75863800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr11:75863000-75863800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr11:75863000-75864000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:75863000-75864000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr11:75863000-75864000	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr11:75863000-75864000	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr11:75863000-75864000	Flanking Active TSS	K562	blood
24	chr11:75863000-75864400	Flanking Active TSS	GM12878-XiMat	blood
25	chr11:75863000-75864800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:75863000-75865000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:75863000-75865000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr11:75863000-75865200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:75863200-75863600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:75863200-75863600	Active TSS	Brain Cingulate Gyrus	brain
31	chr11:75863200-75863600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr11:75863200-75863600	Active TSS	Fetal Heart	heart
33	chr11:75863200-75863600	Active TSS	A549	lung
34	chr11:75863200-75863800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr11:75863200-75863800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:75863200-75863800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr11:75863200-75863800	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr11:75863200-75863800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr11:75863200-75863800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr11:75863200-75863800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr11:75863200-75863800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr11:75863200-75863800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:75863200-75863800	Active TSS	Brain Angular Gyrus	brain
44	chr11:75863200-75863800	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr11:75863200-75863800	Flanking Active TSS	Colonic Mucosa	Colon
46	chr11:75863200-75863800	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr11:75863200-75863800	Active TSS	Fetal Kidney	kidney
48	chr11:75863200-75863800	Flanking Active TSS	HMEC	breast
49	chr11:75863200-75863800	Active TSS	HSMM	muscle
50	chr11:75863200-75863800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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