Variant report

Variant	rs888448
Chromosome Location	chr8:39762102-39762103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:39759516..39761246-chr8:39761675..39764578,2	K562	blood:

Variant related genes	Relation type
ENSG00000131203	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10086641	0.83[AMR][1000 genomes]
rs10283355	0.84[AMR][1000 genomes]
rs10958571	0.83[AMR][1000 genomes]
rs13273328	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1808344	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2010450	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2111742	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2340950	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28375138	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28462997	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2879895	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34208092	0.84[AMR][1000 genomes]
rs3808606	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3824259	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4472503	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6474185	0.80[AMR][1000 genomes]
rs6474190	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6474191	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6474192	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6980572	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017272	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7017446	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7816397	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7838952	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7838957	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7839240	0.81[AMR][1000 genomes]
rs888447	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9298585	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9657182	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9657183	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv508505	chr8:39730094-39791331	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39759600-39762400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr8:39759800-39762200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr8:39759800-39762800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:39760200-39770400	Weak transcription	Right Atrium	heart
5	chr8:39760800-39762600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr8:39760800-39763000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:39761000-39763000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:39761400-39762200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:39761400-39766800	Weak transcription	Fetal Lung	lung
10	chr8:39761600-39762200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:39761600-39762800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr8:39761600-39763000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:39762000-39762800	Weak transcription	H9 Cell Line	embryonic stem cell

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