Variant report

Variant	esv2442671
Chromosome Location	chr11:64110955-64110955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr11:64109230-64111125	IMR90	lung:	n/a	chr11:64110190-64110200

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64108620..64111741-chr11:64119418..64122798,4	MCF-7	breast:
2	chr11:64109881..64112376-chr11:64133926..64136409,3	K562	blood:
3	chr11:64078839..64083408-chr11:64108257..64111409,4	MCF-7	breast:
4	chr11:64070411..64072227-chr11:64108642..64111595,2	MCF-7	breast:
5	chr11:64001193..64003368-chr11:64108712..64111498,2	MCF-7	breast:
6	chr10:74450774..74453542-chr11:64109200..64111337,2	MCF-7	breast:
7	chr11:64109881..64111855-chr11:64133926..64136409,2	K562	blood:
8	chr11:64008607..64011562-chr11:64108610..64113296,4	MCF-7	breast:
9	chr11:64072715..64075742-chr11:64108562..64111155,5	MCF-7	breast:
10	chr11:64110456..64113002-chr11:64125236..64127679,2	MCF-7	breast:
11	chr11:64109106..64114264-chr11:64115033..64120054,6	MCF-7	breast:
12	chr11:64036423..64038929-chr11:64108620..64112959,5	K562	blood:
13	chr11:64012324..64016807-chr11:64110478..64112580,4	MCF-7	breast:
14	chr11:63932620..63934152-chr11:64110470..64112736,2	MCF-7	breast:
15	chr11:64085064..64087232-chr11:64106469..64111767,5	MCF-7	breast:
16	chr11:64035871..64037932-chr11:64108620..64111379,2	K562	blood:
17	chr11:63984496..63987106-chr11:64110759..64113104,2	K562	blood:
18	chr11:64083618..64086276-chr11:64108878..64111761,4	K562	blood:
19	chr11:63972230..63976425-chr11:64106710..64112651,7	K562	blood:
20	chr11:64068655..64075946-chr11:64105786..64111623,11	K562	blood:

No data

Variant related genes	Relation type
CCDC88B	TF binding region
ENSG00000149781	chromatin interactions
ENSG00000173457	chromatin interactions
ENSG00000173486	chromatin interactions
ENSG00000168071	chromatin interactions
ENSG00000173113	chromatin interactions
ENSG00000162302	chromatin interactions
ENSG00000219435	chromatin interactions
ENSG00000221273	chromatin interactions
ENSG00000156026	chromatin interactions
ENSG00000256940	chromatin interactions
ENSG00000173264	chromatin interactions
ENSG00000126432	chromatin interactions
ENSG00000133315	chromatin interactions
ENSG00000256116	chromatin interactions
ENSG00000173511	chromatin interactions
ENSG00000173153	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 94 )

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	rs61354326	chr11:64110955-64110956	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64108200-64111200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:64108200-64111800	Enhancers	Placenta	Placenta
3	chr11:64108600-64111000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:64108800-64111000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:64108800-64111600	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr11:64108800-64111600	Genic enhancers	Spleen	Spleen
7	chr11:64109600-64111000	Enhancers	Liver	Liver
8	chr11:64109600-64111400	Enhancers	Gastric	stomach
9	chr11:64109800-64111000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:64110000-64111000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:64110000-64111000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr11:64110000-64111200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:64110000-64111200	Enhancers	Fetal Stomach	stomach
14	chr11:64110000-64111400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:64110000-64111400	Enhancers	Stomach Mucosa	stomach
16	chr11:64110000-64111600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:64110000-64111600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:64110000-64111600	Genic enhancers	GM12878-XiMat	blood
19	chr11:64110000-64111600	Enhancers	K562	blood
20	chr11:64110000-64112200	Enhancers	Fetal Intestine Large	intestine
21	chr11:64110000-64113200	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr11:64110000-64114600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:64110000-64115800	Weak transcription	HSMM	muscle
24	chr11:64110000-64122400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:64110200-64111000	Weak transcription	Primary B cells from cord blood	blood
26	chr11:64110200-64111000	Enhancers	Pancreas	Pancrea
27	chr11:64110200-64111000	Enhancers	HMEC	breast
28	chr11:64110200-64111200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:64110200-64111600	Enhancers	Esophagus	oesophagus
30	chr11:64110200-64112800	Enhancers	Fetal Muscle Leg	muscle
31	chr11:64110200-64113400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:64110200-64117800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:64110200-64125000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:64110200-64125200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr11:64110400-64111000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr11:64110400-64111000	Enhancers	Adipose Nuclei	Adipose
37	chr11:64110400-64111000	Enhancers	Brain Anterior Caudate	brain
38	chr11:64110400-64111000	Enhancers	Duodenum Mucosa	Duodenum
39	chr11:64110400-64111000	Enhancers	Rectal Smooth Muscle	rectum
40	chr11:64110400-64111000	Genic enhancers	Right Atrium	heart
41	chr11:64110400-64111000	Enhancers	Right Ventricle	heart
42	chr11:64110400-64111000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:64110400-64111200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:64110400-64111200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:64110400-64111200	Genic enhancers	Fetal Thymus	thymus
46	chr11:64110400-64111200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr11:64110400-64111400	Enhancers	A549	lung
48	chr11:64110400-64111600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr11:64110400-64112200	Enhancers	Fetal Intestine Small	intestine
50	chr11:64110400-64114600	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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