Variant report

Variant	rs56016319
Chromosome Location	chr8:125842635-125842636
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125835660..125838379-chr8:125840194..125843093,3	K562	blood:
2	chr8:125841473..125844398-chr8:125845586..125849365,3	MCF-7	breast:

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

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

rs_ID	r²[population]
rs12544599	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13257530	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13279419	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35575500	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4871554	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv528288	chr8:125838127-125847357	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125836400-125850800	Weak transcription	Right Atrium	heart
2	chr8:125836800-125843200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:125838200-125843000	Weak transcription	NHDF-Ad	bronchial
4	chr8:125840800-125844000	Enhancers	K562	blood
5	chr8:125841200-125844000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:125841600-125843200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:125842000-125844000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:125842200-125843200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:125842200-125843600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:125842200-125843800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:125842200-125843800	Enhancers	HUVEC	blood vessel
12	chr8:125842200-125843800	Enhancers	Osteobl	bone
13	chr8:125842200-125844800	Weak transcription	Psoas Muscle	Psoas
14	chr8:125842200-125845600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:125842400-125843600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:125842400-125844000	Enhancers	Stomach Mucosa	stomach
17	chr8:125842400-125844600	Weak transcription	Esophagus	oesophagus
18	chr8:125842400-125845800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:125842400-125846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:125842400-125846600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:125842600-125843400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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