Variant report

Variant	rs73279718
Chromosome Location	chr8:99924922-99924923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99904278..99906738-chr8:99922881..99925735,2	K562	blood:
2	chr8:99922248..99926179-chr8:99930900..99934447,3	MCF-7	breast:
3	chr8:99894098..99895893-chr8:99922111..99925034,2	K562	blood:

Variant related genes	Relation type
ENSG00000223281	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs4585723	1.00[AMR][1000 genomes]
rs58433985	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60588461	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6982060	1.00[AMR][1000 genomes]
rs6999016	1.00[AMR][1000 genomes]
rs73275899	1.00[AMR][1000 genomes]
rs73277804	1.00[AMR][1000 genomes]
rs73277806	1.00[AMR][1000 genomes]
rs73277807	1.00[AMR][1000 genomes]
rs73277809	1.00[AMR][1000 genomes]
rs73277812	1.00[AMR][1000 genomes]
rs73277822	1.00[AMR][1000 genomes]
rs73277859	1.00[AMR][1000 genomes]
rs73277866	1.00[AMR][1000 genomes]
rs73277869	1.00[AMR][1000 genomes]
rs73277870	1.00[AMR][1000 genomes]
rs73277872	1.00[AMR][1000 genomes]
rs73277876	1.00[AMR][1000 genomes]
rs73277884	1.00[AMR][1000 genomes]
rs73277895	1.00[AMR][1000 genomes]
rs73277897	1.00[AMR][1000 genomes]
rs73279716	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279722	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279723	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279736	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279739	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279749	1.00[AMR][1000 genomes]
rs73279752	1.00[AMR][1000 genomes]
rs73279757	1.00[AMR][1000 genomes]
rs73279767	1.00[AMR][1000 genomes]
rs73281614	1.00[AMR][1000 genomes]
rs73281620	1.00[AMR][1000 genomes]
rs73281629	1.00[AMR][1000 genomes]
rs73281632	1.00[AMR][1000 genomes]
rs73281661	1.00[AMR][1000 genomes]
rs73281671	1.00[AMR][1000 genomes]
rs73281672	1.00[AMR][1000 genomes]
rs73281685	1.00[AMR][1000 genomes]
rs73281686	1.00[AMR][1000 genomes]
rs73281692	1.00[AMR][1000 genomes]
rs73281693	1.00[AMR][1000 genomes]
rs73281695	1.00[AMR][1000 genomes]
rs7818030	1.00[AMR][1000 genomes]
rs7826107	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7829755	1.00[AMR][1000 genomes]
rs7841627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7842701	1.00[AMR][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	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv6327	chr8:99919634-99964563	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99918800-99926400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:99922800-99925400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:99923400-99925000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:99924200-99925000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:99924400-99925000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:99924400-99925000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:99924400-99927200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:99924600-99925000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:99924600-99925000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:99924600-99925000	Enhancers	NHEK	skin
11	chr8:99924600-99925200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:99924600-99925400	Enhancers	HMEC	breast
13	chr8:99924600-99925800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:99924600-99925800	Enhancers	A549	lung
15	chr8:99924800-99925000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:99924800-99925000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:99924800-99925200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:99924800-99925400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:99924800-99926800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:99924800-99926800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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