Variant report

Variant	esv33971
Chromosome Location	chr11:63946624-63946699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63929801..63939249-chr11:63945151..63958671,77	MCF-7	breast:
2	chr11:63932221..63937015-chr11:63943035..63946757,7	K562	blood:
3	chr11:63940462..63942702-chr11:63944754..63946922,2	K562	blood:
4	chr11:63941531..63943845-chr11:63945242..63947346,2	MCF-7	breast:
5	chr11:63931311..63936745-chr11:63945647..63958123,49	MCF-7	breast:
6	chr11:63941163..63943232-chr11:63946290..63948899,3	K562	blood:
7	chr11:63944790..63948071-chr11:64005777..64008701,3	MCF-7	breast:
8	chr11:63929784..63936274-chr11:63944807..63955078,25	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173486	chromatin interactions
ENSG00000133315	chromatin interactions

Extended variants
information (count: 4 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554743830	chr11:63946646-63946647	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs11604782	chr11:63946650-63946651	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs543606234	chr11:63946651-63946652	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563295815	chr11:63946659-63946660	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63934200-63948000	Weak transcription	Right Ventricle	heart
2	chr11:63934200-63948200	Weak transcription	Brain Angular Gyrus	brain
3	chr11:63934200-63948200	Weak transcription	Esophagus	oesophagus
4	chr11:63934200-63948200	Weak transcription	Stomach Mucosa	stomach
5	chr11:63934200-63948800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:63934200-63950800	Weak transcription	Gastric	stomach
7	chr11:63934400-63948000	Weak transcription	Right Atrium	heart
8	chr11:63935000-63948200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:63935800-63947400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:63935800-63948000	Weak transcription	Pancreas	Pancrea
11	chr11:63937600-63946800	Weak transcription	A549	lung
12	chr11:63941400-63948200	Weak transcription	Brain Substantia Nigra	brain
13	chr11:63941600-63946800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:63941600-63949000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:63941800-63948000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:63941800-63948200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr11:63942000-63948000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:63942400-63948200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:63943200-63949000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:63943400-63948200	Weak transcription	Aorta	Aorta
21	chr11:63943600-63948200	Weak transcription	NHLF	lung
22	chr11:63943600-63951000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:63943800-63946800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:63944000-63948000	Weak transcription	HSMMtube	muscle
25	chr11:63944600-63948200	Weak transcription	Thymus	Thymus
26	chr11:63944600-63949000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:63944800-63948000	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:63944800-63948000	Weak transcription	Left Ventricle	heart
29	chr11:63944800-63948000	Weak transcription	HSMM	muscle
30	chr11:63944800-63948400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:63944800-63948400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:63944800-63948800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:63944800-63948800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:63944800-63948800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr11:63944800-63950600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:63945000-63947200	Weak transcription	Primary T cells from cord blood	blood
37	chr11:63945000-63948200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr11:63945000-63948400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr11:63945000-63948600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:63945000-63948600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:63945000-63948800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:63945000-63949000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:63945000-63949000	Weak transcription	Dnd41	blood
44	chr11:63945000-63952000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:63945200-63947200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:63945400-63947400	Strong transcription	Fetal Muscle Leg	muscle
47	chr11:63945400-63948200	Weak transcription	Fetal Thymus	thymus
48	chr11:63945400-63948400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:63945400-63948400	Weak transcription	Fetal Kidney	kidney
50	chr11:63945600-63948000	Weak transcription	Brain Inferior Temporal Lobe	brain

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