Variant report

Variant	esv1007334
Chromosome Location	chr11:64183585-64183624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:64183611-64183656	MCF-7	breast:	n/a	n/a
2	ELF1	chr11:64183580-64183942	GM12878	blood:	n/a	n/a
3	EP300	chr11:64183407-64183887	GM12878	blood:	n/a	n/a
4	MAX	chr11:64183509-64183907	NB4	blood:	n/a	chr11:64183795-64183805
5	MAX	chr11:64183321-64183950	K562	blood:	n/a	chr11:64183795-64183805
6	MYC	chr11:64183526-64183799	GM12878	blood:	n/a	n/a
7	MYC	chr11:64183418-64183826	MCF-7	breast:	n/a	chr11:64183795-64183805
8	MYC	chr11:64183529-64183730	MCF-7	breast:	n/a	n/a
9	MYC	chr11:64183583-64183593	MCF-7	breast:	n/a	n/a
10	MYC	chr11:64183540-64183661	MCF-7	breast:	n/a	n/a
11	MYC	chr11:64183598-64183649	MCF-7	breast:	n/a	n/a
12	PAX5	chr11:64183198-64184055	GM12878	blood:	n/a	n/a
13	PAX5	chr11:64183411-64183807	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:64183268-64184070	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:64183608-64183835	MCF-7	breast:	n/a	n/a
16	POLR2A	chr11:64183434-64183907	MCF-7	breast:	n/a	n/a
17	POLR2A	chr11:64183305-64183970	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:64183566-64183768	A549	lung:	n/a	n/a
19	POLR2A	chr11:64183528-64184016	HL-60	blood:	n/a	n/a
20	POLR2A	chr11:64183487-64183813	Gliobla	brain:	n/a	n/a
21	REST	chr11:64183455-64183891	PANC-1	pancreas:	n/a	n/a
22	RUNX3	chr11:64183403-64183875	GM12878	blood:	n/a	n/a
23	SP1	chr11:64183471-64183873	GM12878	blood:	n/a	n/a
24	TCF12	chr11:64183413-64183901	GM12878	blood:	n/a	n/a
25	TCF12	chr11:64183411-64183914	GM12878	blood:	n/a	n/a
26	TCF3	chr11:64183352-64183856	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000231492	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61884052	chr11:64183610-64183611	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs61884053	chr11:64183617-64183618	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs67544429	chr11:64183619-64183620	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Melanoma	20877625	CNVD
Autism	22209245	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64178000-64184200	Weak transcription	Right Atrium	heart
2	chr11:64182200-64183800	Enhancers	Spleen	Spleen
3	chr11:64182400-64183600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr11:64182400-64183600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:64182400-64183800	Enhancers	Placenta	Placenta
6	chr11:64182400-64184000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:64182400-64184000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:64182600-64183600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr11:64182600-64183800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:64182800-64196000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:64183000-64183600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:64183600-64183800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:64183600-64184000	Enhancers	Gastric	stomach
14	chr11:64183600-64186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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