Variant report

Variant	rs888447
Chromosome Location	chr8:39762801-39762802
allele	G/T
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: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10086641	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10283355	0.89[AMR][1000 genomes]
rs10958571	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13273328	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1808344	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2010450	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2111742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2340950	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28375138	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28462997	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2879895	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34208092	0.89[AMR][1000 genomes]
rs3808606	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3824259	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4472503	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6474185	0.85[AMR][1000 genomes]
rs6474189	0.84[AMR][1000 genomes]
rs6474190	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6474191	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6474192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6980572	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6989075	0.84[AMR][1000 genomes]
rs7004950	0.81[AMR][1000 genomes]
rs7017272	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7017446	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7816397	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7838952	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7838957	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7839240	0.85[AMR][1000 genomes]
rs888448	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9298585	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9657182	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9657183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	chr8:39760200-39770400	Weak transcription	Right Atrium	heart
2	chr8:39760800-39763000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:39761000-39763000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:39761400-39766800	Weak transcription	Fetal Lung	lung
5	chr8:39761600-39763000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr8:39762400-39763200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
7	chr8:39762600-39763000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:39762600-39771200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:39762800-39763000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:39762800-39763200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
11	chr8:39762800-39763200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
12	chr8:39762800-39763400	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
13	chr8:39762800-39763400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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