Variant report

Variant	rs28441665
Chromosome Location	chr4:55083056-55083057
allele	C/T
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	EP300	chr4:55081226-55083068	SK-N-SH	brain:	n/a	chr4:55082737-55082751 chr4:55081761-55081771

Variant related genes	Relation type
ENSG00000242670	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17084040	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17084042	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28451895	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57217483	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs60251664	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55079000-55083600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:55079400-55083600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr4:55079800-55083600	Weak transcription	Osteobl	bone
4	chr4:55079800-55083800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:55080000-55083600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:55080000-55083800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:55080000-55083800	Weak transcription	Esophagus	oesophagus
8	chr4:55080000-55083800	Weak transcription	Right Ventricle	heart
9	chr4:55080200-55083800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:55080200-55083800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:55080200-55083800	Weak transcription	Ovary	ovary
12	chr4:55080200-55083800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:55080400-55083600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:55080400-55083600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:55080400-55083800	Weak transcription	Hela-S3	cervix
16	chr4:55080400-55083800	Weak transcription	HMEC	breast
17	chr4:55080600-55083600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:55080600-55083600	Weak transcription	Left Ventricle	heart
19	chr4:55080600-55083800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:55080600-55083800	Weak transcription	HUVEC	blood vessel
21	chr4:55080600-55083800	Weak transcription	NHEK	skin
22	chr4:55082000-55083800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:55082400-55083800	Weak transcription	NHLF	lung
24	chr4:55082600-55083800	Weak transcription	NHDF-Ad	bronchial
25	chr4:55082800-55083600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:55083000-55083800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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