Variant report

Variant	esv2367717
Chromosome Location	chr11:67437820-67437822
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	BHLHE40	chr11:67437130-67437820	HepG2	liver:	n/a	n/a
2	EBF1	chr11:67437596-67437833	GM12878	blood:	n/a	n/a
3	IRF4	chr11:67437040-67437912	GM12878	blood:	n/a	n/a
4	IRF4	chr11:67437083-67437950	GM12878	blood:	n/a	n/a
5	NR3C1	chr11:67437065-67437828	A549	lung:	n/a	n/a
6	PAX5	chr11:67437103-67437850	GM12878	blood:	n/a	n/a
7	PAX5	chr11:67437566-67437823	GM12878	blood:	n/a	n/a
8	POU2F2	chr11:67437068-67437859	GM12878	blood:	n/a	n/a
9	ZBTB33	chr11:67437027-67437910	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67434481..67439568-chr11:67439660..67443258,9	MCF-7	breast:
2	chr11:67397077..67399431-chr11:67436542..67439337,2	K562	blood:
3	chr11:67396980..67398688-chr11:67437438..67439851,2	MCF-7	breast:

Variant related genes	Relation type
ALDH3B2	TF binding region
ENSG00000132746	chromatin interactions
ENSG00000167799	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 97 )

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	rs112767553	chr11:67437820-67437821	Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	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
Myelofibrosis	22110671	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
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
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67430600-67440800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:67434000-67442400	Weak transcription	Fetal Intestine Small	intestine
3	chr11:67434400-67438600	Enhancers	Placenta	Placenta
4	chr11:67435600-67438200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:67435600-67438400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:67437000-67438400	Weak transcription	Primary B cells from cord blood	blood
7	chr11:67437200-67441600	Weak transcription	Gastric	stomach
8	chr11:67437800-67438000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:67437800-67438000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:67437800-67438000	Enhancers	Fetal Thymus	thymus
11	chr11:67437800-67438000	Flanking Active TSS	Dnd41	blood
12	chr11:67437800-67438400	Enhancers	Thymus	Thymus
13	chr11:67437800-67439000	Genic enhancers	Esophagus	oesophagus

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