Variant report

Variant	esv2125275
Chromosome Location	chr11:63891010-63891011
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	chr11:63888929..63891222-chr11:63896109..63898759,2	MCF-7	breast:
2	chr11:63884385..63887191-chr11:63889862..63891676,2	MCF-7	breast:
3	chr11:63889039..63891397-chr11:63901095..63904442,4	K562	blood:
4	chr11:63890559..63892609-chr11:63919127..63921688,2	MCF-7	breast:
5	chr11:63854089..63858016-chr11:63890229..63892946,3	MCF-7	breast:
6	chr11:63888646..63891541-chr11:63955037..63956555,2	MCF-7	breast:
7	chr11:63867468..63869509-chr11:63890366..63892303,2	MCF-7	breast:
8	chr11:63889514..63891189-chr11:63902190..63904442,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256341	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 102 )

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	rs11231700	chr11:63891010-63891011	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63875400-63896200	Weak transcription	Spleen	Spleen
2	chr11:63879800-63891600	Weak transcription	Primary T cells from cord blood	blood
3	chr11:63881800-63891800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:63882200-63892800	Weak transcription	Fetal Kidney	kidney
5	chr11:63885000-63896600	Weak transcription	Hela-S3	cervix
6	chr11:63885400-63892400	Weak transcription	Fetal Intestine Small	intestine
7	chr11:63885400-63898600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:63885600-63911200	Weak transcription	Gastric	stomach
9	chr11:63886000-63891200	Enhancers	Fetal Brain Male	brain
10	chr11:63886800-63908600	Weak transcription	Ovary	ovary
11	chr11:63887200-63892000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr11:63888000-63891800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr11:63888000-63891800	Enhancers	Fetal Muscle Leg	muscle
14	chr11:63888200-63891600	Enhancers	Brain Anterior Caudate	brain
15	chr11:63888200-63891800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr11:63888200-63892000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:63888200-63894000	Enhancers	Fetal Thymus	thymus
18	chr11:63889800-63891800	Enhancers	Pancreas	Pancrea
19	chr11:63890000-63899000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:63890200-63891200	Enhancers	Colon Smooth Muscle	Colon
21	chr11:63890200-63891400	Enhancers	Liver	Liver
22	chr11:63890200-63898000	Weak transcription	Lung	lung
23	chr11:63890200-63899200	Weak transcription	Fetal Lung	lung
24	chr11:63890400-63891200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr11:63890400-63894200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr11:63890400-63894400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:63890600-63891200	Enhancers	Fetal Brain Female	brain
28	chr11:63890600-63891600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:63890600-63892200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:63890600-63899200	Weak transcription	Left Ventricle	heart
31	chr11:63890600-63899400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:63890600-63913600	Weak transcription	Esophagus	oesophagus
33	chr11:63890800-63891200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:63890800-63891200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:63890800-63891200	Enhancers	Stomach Smooth Muscle	stomach
36	chr11:63890800-63891600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:63890800-63892000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:63890800-63893200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:63890800-63893600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:63890800-63893600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:63890800-63894000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:63890800-63894000	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:63890800-63894200	Weak transcription	Brain Substantia Nigra	brain
44	chr11:63890800-63894400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:63890800-63894600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:63890800-63895200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:63890800-63899200	Weak transcription	Brain Angular Gyrus	brain
48	chr11:63890800-63899200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr11:63890800-63899400	Weak transcription	Right Atrium	heart
50	chr11:63891000-63892600	Weak transcription	Right Ventricle	heart

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