Variant report

Variant	rs72688552
Chromosome Location	chr8:87350058-87350059
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	chr8:87349671..87351521-chr8:87352158..87355032,2	K562	blood:
2	chr8:87349285..87351586-chr8:87352158..87357021,4	K562	blood:

Variant related genes	Relation type
ENSG00000254231	Chromatin interaction
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10504824	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17607526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17607671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17607762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17682190	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41374044	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688516	1.00[AMR][1000 genomes]
rs72688541	0.83[EUR][1000 genomes]
rs72688543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688555	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688556	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688567	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72688569	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688571	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688572	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688578	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688580	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688583	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1017535	chr8:87261702-87367934	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3441725	chr8:87342885-87359895	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87343400-87354000	Weak transcription	Right Atrium	heart
2	chr8:87346800-87353200	Weak transcription	Liver	Liver
3	chr8:87347000-87353600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:87347800-87353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:87347800-87354000	Weak transcription	Gastric	stomach
6	chr8:87347800-87354000	Weak transcription	Pancreas	Pancrea
7	chr8:87349600-87350600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:87349600-87350600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr8:87349600-87350800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:87349600-87351200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:87349600-87351200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:87349800-87350200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr8:87350000-87350600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr8:87350000-87350600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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