Variant report

Variant	rs28550053
Chromosome Location	chr8:19934305-19934306
allele	A/G
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	MAFK	chr8:19934079-19934315	HepG2	liver:	n/a	chr8:19934140-19934155 chr8:19934291-19934307 chr8:19934291-19934302 chr8:19934144-19934155 chr8:19934291-19934302 chr8:19934290-19934304

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19928488..19931402-chr8:19934258..19936507,2	K562	blood:
2	chr8:19928488..19931156-chr8:19934258..19936000,2	K562	blood:

Variant related genes	Relation type
ENSG00000253775	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13279860	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28679685	0.98[ASN][1000 genomes]
rs34288216	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35445944	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv890633	chr8:19875100-19985382	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19931400-19935000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:19931600-19936800	Enhancers	Placenta	Placenta
3	chr8:19931800-19934400	Enhancers	Adipose Nuclei	Adipose
4	chr8:19932200-19936600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:19932400-19937000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:19932800-19934400	Enhancers	Left Ventricle	heart
7	chr8:19933200-19936200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr8:19933400-19934400	Enhancers	Right Ventricle	heart
9	chr8:19933400-19934800	Enhancers	Psoas Muscle	Psoas
10	chr8:19933600-19934400	Enhancers	Fetal Stomach	stomach
11	chr8:19933600-19934400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr8:19933600-19934600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:19933800-19935600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:19933800-19936200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:19933800-19936600	Weak transcription	Lung	lung
16	chr8:19933800-19936600	Weak transcription	Right Atrium	heart
17	chr8:19934000-19934400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:19934000-19934400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr8:19934000-19936200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:19934000-19936200	Weak transcription	Spleen	Spleen
21	chr8:19934200-19934400	Flanking Active TSS	Fetal Lung	lung
22	chr8:19934200-19934800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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