Variant report

Variant	rs73279717
Chromosome Location	chr8:99923229-99923230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr8:99922791-99923401	K562	blood:	n/a	n/a
2	MAX	chr8:99922872-99923392	K562	blood:	n/a	chr8:99923272-99923282
3	YY1	chr8:99923033-99923242	K562	blood:	n/a	n/a
4	JUND	chr8:99922782-99923390	K562	blood:	n/a	chr8:99922947-99922956
5	EBF1	chr8:99923084-99923263	GM12878	blood:	n/a	chr8:99923112-99923123
6	MAFK	chr8:99923043-99923332	K562	blood:	n/a	chr8:99923189-99923205
7	SRF	chr8:99923080-99923296	K562	blood:	n/a	chr8:99923220-99923233 chr8:99923220-99923231 chr8:99923219-99923234 chr8:99923217-99923235 chr8:99923222-99923236
8	USF1	chr8:99923041-99923385	K562	blood:	n/a	n/a
9	MAX	chr8:99923028-99923380	K562	blood:	n/a	chr8:99923272-99923282
10	E2F6	chr8:99923012-99923301	K562	blood:	n/a	n/a
11	SETDB1	chr8:99922792-99923303	U2OS	brain:	n/a	n/a
12	ATF1	chr8:99922773-99923250	K562	blood:	n/a	n/a
13	RCOR1	chr8:99922876-99923271	K562	blood:	n/a	n/a
14	MAX	chr8:99922873-99923429	NB4	blood:	n/a	chr8:99923272-99923282
15	MAX	chr8:99923100-99923300	H1-hESC	embryonic stem cell:	n/a	chr8:99923272-99923282

No.	Distal block	Cell Line	Cell type
1	chr8:99923112..99924735-chr8:99939317..99940986,2	MCF-7	breast:
2	chr8:99904278..99906738-chr8:99922881..99925735,2	K562	blood:
3	chr8:99914410..99918867-chr8:99920230..99924204,4	K562	blood:
4	chr8:99922248..99926179-chr8:99930900..99934447,3	MCF-7	breast:
5	chr8:99894098..99895893-chr8:99922111..99925034,2	K562	blood:

Variant related genes	Relation type
MRP63P7	TF binding region
ENSG00000253415	Chromatin interaction
ENSG00000223281	Chromatin interaction
ENSG00000254312	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]
rs73279718	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99914400-99924600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:99918800-99924400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:99918800-99926400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:99922600-99923400	Enhancers	Dnd41	blood
5	chr8:99922600-99923400	Enhancers	NHEK	skin
6	chr8:99922800-99923400	Enhancers	HMEC	breast
7	chr8:99922800-99923400	Enhancers	K562	blood
8	chr8:99922800-99925400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:99923000-99923400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:99923000-99923400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:99923000-99923400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:99923000-99923600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:99923200-99923400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:99923200-99924600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:99923200-99924800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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