Variant report

Variant	esv1630969
Chromosome Location	chr10:43052387-43052410
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	FOXA1	chr10:43052403-43052701	HepG2	liver:	n/a	n/a
2	HDAC2	chr10:43052391-43052705	HepG2	liver:	n/a	n/a
3	HEY1	chr10:43052339-43052700	HepG2	liver:	n/a	n/a
4	HNF4A	chr10:43052392-43052697	HepG2	liver:	n/a	chr10:43052573-43052586 chr10:43052572-43052585 chr10:43052570-43052588 chr10:43052572-43052586 chr10:43052574-43052586 chr10:43052571-43052586 chr10:43052572-43052585 chr10:43052573-43052585 chr10:43052573-43052585 chr10:43052568-43052590 chr10:43052573-43052585 chr10:43052572-43052586 chr10:43052572-43052585 chr10:43052573-43052585 chr10:43052572-43052586
5	HNF4G	chr10:43052410-43052667	HepG2	liver:	n/a	chr10:43052573-43052586 chr10:43052572-43052585 chr10:43052570-43052588 chr10:43052572-43052586 chr10:43052574-43052586 chr10:43052572-43052585 chr10:43052573-43052585 chr10:43052573-43052585 chr10:43052568-43052590 chr10:43052573-43052585 chr10:43052572-43052586 chr10:43052572-43052585 chr10:43052573-43052585 chr10:43052572-43052586 chr10:43052570-43052585
6	MAX	chr10:43052326-43052737	HepG2	liver:	n/a	n/a
7	MAX	chr10:43052383-43052902	HepG2	liver:	n/a	n/a
8	POLR2A	chr10:43052409-43052576	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43048254..43049868-chr10:43050241..43052640,2	K562	blood:

Variant related genes	Relation type
ZNF37BP	TF binding region
ENSG00000234420	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 54 )

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	rs34303833	chr10:43052387-43052388	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs58355620	chr10:43052388-43052389	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs61622828	chr10:43052391-43052392	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43049200-43052400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr10:43051400-43052600	Flanking Active TSS	HepG2	liver
3	chr10:43052200-43052600	Enhancers	Lung	lung
4	chr10:43052400-43052600	Enhancers	Rectal Mucosa Donor 29	rectum

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