Variant report

Variant	esv3476608
Chromosome Location	chr11:64109316-64109404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:64109160-64109428	K562	blood:	n/a	chr11:64109275-64109286
2	CEBPB	chr11:64109251-64109375	HepG2	liver:	n/a	chr11:64109275-64109286
3	CEBPB	chr11:64109341-64109348	IMR90	lung:	n/a	n/a
4	CTCF	chr11:64109340-64109490	HUVEC	blood vessel:	n/a	n/a
5	GABPA	chr11:64109332-64109726	K562	blood:	n/a	n/a
6	MAX	chr11:64109310-64110340	K562	blood:	n/a	chr11:64110190-64110200
7	MAZ	chr11:64109230-64111125	IMR90	lung:	n/a	chr11:64110190-64110200
8	NR2F2	chr11:64109231-64109641	K562	blood:	n/a	n/a
9	NR2F2	chr11:64109224-64110209	K562	blood:	n/a	n/a
10	POLR2A	chr11:64108979-64110358	HL-60	blood:	n/a	n/a
11	POLR2A	chr11:64109034-64110295	HL-60	blood:	n/a	n/a
12	ZBTB7A	chr11:64109367-64109768	K562	blood:	n/a	chr11:64109402-64109413

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:74450774..74453542-chr11:64109200..64111337,2	MCF-7	breast:
2	chr11:64035871..64037932-chr11:64108620..64111379,2	K562	blood:
3	chr11:64072715..64075742-chr11:64108562..64111155,5	MCF-7	breast:
4	chr11:64108003..64110489-chr11:64126101..64127976,2	MCF-7	breast:
5	chr11:64083618..64086276-chr11:64108878..64111761,4	K562	blood:
6	chr11:64085064..64087232-chr11:64106469..64111767,5	MCF-7	breast:
7	chr11:64001193..64003368-chr11:64108712..64111498,2	MCF-7	breast:
8	chr11:64078839..64083408-chr11:64108257..64111409,4	MCF-7	breast:
9	chr11:63972230..63976425-chr11:64106710..64112651,7	K562	blood:
10	chr11:63951267..63954594-chr11:64105049..64110612,5	MCF-7	breast:
11	chr11:64036423..64038929-chr11:64108620..64112959,5	K562	blood:
12	chr11:64008607..64011562-chr11:64108610..64113296,4	MCF-7	breast:
13	chr11:64108620..64111741-chr11:64119418..64122798,4	MCF-7	breast:
14	chr11:64109106..64114264-chr11:64115033..64120054,6	MCF-7	breast:
15	chr11:64068655..64075946-chr11:64105786..64111623,11	K562	blood:
16	chr11:64070411..64072227-chr11:64108642..64111595,2	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7155-5p	chr11:64109358-64109376	MIMAT0028220
hsa-miR-7155-3p	chr11:64109321-64109339	MIMAT0028221

No data

Variant related genes	Relation type
CCDC88B	TF binding region
ENSG00000168439	chromatin interactions
ENSG00000219435	chromatin interactions
ENSG00000126432	chromatin interactions
ENSG00000168071	chromatin interactions
ENSG00000256116	chromatin interactions
ENSG00000173511	chromatin interactions
ENSG00000156026	chromatin interactions
ENSG00000162302	chromatin interactions
ENSG00000149781	chromatin interactions
ENSG00000173486	chromatin interactions
ENSG00000173113	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000173264	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558172037	chr11:64109322-64109323	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region miRNA	14 gene(s)	Overlapped CNVs	n/a
2	rs201049666	chr11:64109395-64109396	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	14 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:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64099800-64109600	Weak transcription	Liver	Liver
2	chr11:64103000-64109600	Weak transcription	Right Atrium	heart
3	chr11:64103400-64109600	Weak transcription	NH-A	brain
4	chr11:64103800-64109400	Weak transcription	NHEK	skin
5	chr11:64106800-64110400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr11:64107200-64109400	Active TSS	Rectal Smooth Muscle	rectum
7	chr11:64107200-64110000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr11:64108000-64109400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr11:64108000-64109400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr11:64108000-64109600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:64108000-64110400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr11:64108000-64110800	Enhancers	Lung	lung
13	chr11:64108200-64109400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:64108200-64109600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:64108200-64109600	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr11:64108200-64110200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:64108200-64111200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:64108200-64111800	Enhancers	Placenta	Placenta
19	chr11:64108400-64109400	Enhancers	Gastric	stomach
20	chr11:64108400-64109400	Weak transcription	Right Ventricle	heart
21	chr11:64108400-64109600	Enhancers	Adipose Nuclei	Adipose
22	chr11:64108400-64109800	Flanking Active TSS	GM12878-XiMat	blood
23	chr11:64108400-64110000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr11:64108400-64110400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr11:64108600-64109400	Enhancers	Primary T cells from cord blood	blood
26	chr11:64108600-64109400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:64108600-64109400	Weak transcription	Brain Substantia Nigra	brain
28	chr11:64108600-64109400	Enhancers	Hela-S3	cervix
29	chr11:64108600-64109600	Genic enhancers	Primary T cells fromperipheralblood	blood
30	chr11:64108600-64109600	Enhancers	Brain Anterior Caudate	brain
31	chr11:64108600-64109600	Enhancers	Duodenum Mucosa	Duodenum
32	chr11:64108600-64109600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr11:64108600-64109600	Bivalent Enhancer	Fetal Intestine Large	intestine
34	chr11:64108600-64109600	Bivalent Enhancer	Fetal Stomach	stomach
35	chr11:64108600-64109600	Enhancers	Stomach Mucosa	stomach
36	chr11:64108600-64109800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:64108600-64109800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr11:64108600-64110000	Enhancers	Primary hematopoietic stem cells	blood
39	chr11:64108600-64110200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr11:64108600-64110800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr11:64108600-64110800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:64108600-64111000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:64108800-64109400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr11:64108800-64109400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr11:64108800-64109400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:64108800-64109400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:64108800-64109400	Bivalent Enhancer	HepG2	liver
48	chr11:64108800-64109600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:64108800-64109600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr11:64108800-64109600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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