Variant report

Variant	esv3391276
Chromosome Location	chr11:65814728-65814979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr11:65814888-65815822	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr11:65814968-65815657	ECC-1	luminal epithelium:	n/a	chr11:65815486-65815496
3	NFIC	chr11:65814890-65815843	ECC-1	luminal epithelium:	n/a	n/a
4	NFIC	chr11:65814930-65815749	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr11:65814970-65815431	ECC-1	luminal epithelium:	n/a	n/a
6	SPI1	chr11:65814571-65814793	GM12891	blood:	n/a	chr11:65814586-65814593 chr11:65814673-65814682
7	SPI1	chr11:65814476-65814788	GM12891	blood:	n/a	chr11:65814586-65814593 chr11:65814673-65814682
8	TCF12	chr11:65814813-65815844	ECC-1	luminal epithelium:	n/a	n/a
9	TCF12	chr11:65814951-65815745	ECC-1	luminal epithelium:	n/a	n/a
10	TEAD4	chr11:65814853-65815661	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65775333..65777143-chr11:65814393..65815931,2	K562	blood:
2	chr11:65812475..65816551-chr11:65816982..65820716,11	MCF-7	breast:
3	chr11:65657526..65660220-chr11:65812973..65815737,3	MCF-7	breast:
4	chr11:65625460..65627903-chr11:65814172..65815840,2	K562	blood:
5	chr11:65811021..65815121-chr11:65816503..65821449,7	K562	blood:
6	chr11:65812922..65815510-chr11:65837744..65839701,2	K562	blood:
7	chr11:65767772..65771693-chr11:65812597..65815090,3	MCF-7	breast:
8	chr11:65792176..65796965-chr11:65812595..65817477,5	MCF-7	breast:
9	chr11:65809951..65813580-chr11:65814012..65816318,3	K562	blood:

No data

Variant related genes	Relation type
GAL3ST3	TF binding region
SF3B2	TF binding region
ENSG00000238752	chromatin interactions
ENSG00000175334	chromatin interactions
ENSG00000175294	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000175602	chromatin interactions
ENSG00000175229	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000087365	chromatin interactions
ENSG00000175115	chromatin interactions
ENSG00000175376	chromatin interactions

Extended variants
information (count: 6 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186572691	chr11:65814752-65814753	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs115793637	chr11:65814786-65814787	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs576821030	chr11:65814823-65814824	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs2452681	chr11:65814842-65814843	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs375564103	chr11:65814883-65814884	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs550328178	chr11:65814972-65814973	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65790400-65818600	Weak transcription	HSMM	muscle
2	chr11:65805000-65815800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:65809800-65815800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:65812200-65814800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:65812400-65815200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:65812800-65815000	Weak transcription	Fetal Brain Male	brain
7	chr11:65812800-65815000	Weak transcription	Fetal Heart	heart
8	chr11:65812800-65816200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:65813000-65814800	Weak transcription	Left Ventricle	heart
10	chr11:65813000-65815200	Weak transcription	Brain Angular Gyrus	brain
11	chr11:65813000-65815200	Weak transcription	Brain Anterior Caudate	brain
12	chr11:65813000-65815600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:65813000-65816200	Weak transcription	Brain Substantia Nigra	brain
14	chr11:65813000-65816600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:65813000-65818200	Weak transcription	Lung	lung
16	chr11:65813200-65815000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:65813200-65815200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:65813200-65815200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:65813200-65815400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:65813200-65815400	Weak transcription	Fetal Thymus	thymus
21	chr11:65813200-65815600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:65813200-65815600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:65813200-65815800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:65813200-65816000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:65813200-65816200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:65813200-65816200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:65813200-65817200	Weak transcription	Hela-S3	cervix
28	chr11:65813200-65818200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:65813200-65818200	Weak transcription	Spleen	Spleen
30	chr11:65813200-65818400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:65813200-65818800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:65813400-65815200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:65813400-65815200	Weak transcription	Right Ventricle	heart
34	chr11:65813400-65816200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:65813400-65816800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:65813400-65817600	Weak transcription	K562	blood
37	chr11:65813400-65818200	Weak transcription	A549	lung
38	chr11:65813600-65815200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:65813600-65815200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:65813600-65818200	Weak transcription	Dnd41	blood
41	chr11:65813800-65815200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:65813800-65815400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:65814000-65815200	Enhancers	Right Atrium	heart
44	chr11:65814000-65816200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:65814200-65819200	Enhancers	Pancreas	Pancrea
46	chr11:65814400-65814800	Weak transcription	Brain Germinal Matrix	brain
47	chr11:65814400-65814800	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr11:65814400-65815200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr11:65814400-65815400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:65814400-65818800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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