Variant report

Variant	rs4282551
Chromosome Location	chr8:124185916-124185917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124184930..124186918-chr8:124191139..124192862,2	K562	blood:
2	chr8:124183395..124185998-chr8:124186648..124190984,3	K562	blood:
3	chr8:123793070..123795437-chr8:124184776..124186817,2	MCF-7	breast:
4	chr8:124185720..124188524-chr8:124283602..124285793,2	K562	blood:

Variant related genes	Relation type
ENSG00000178764	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000221461	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10096350	1.00[CEU][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10111810	0.81[EUR][1000 genomes]
rs10505430	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11988157	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11992152	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13259806	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13260626	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13260775	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13260798	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13261021	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13261066	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13261100	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16898043	1.00[GIH][hapmap]
rs16898076	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16898084	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16898086	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16898088	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16898095	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16898097	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1713733	0.88[CEU][hapmap];1.00[GIH][hapmap]
rs17315999	1.00[GIH][hapmap]
rs17316158	1.00[GIH][hapmap]
rs17323510	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28513831	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28528232	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28537152	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28542077	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28624331	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28670850	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28694222	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4377946	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57165742	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57322232	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57902736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58116120	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58177772	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58189203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58741168	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59428574	0.81[EUR][1000 genomes]
rs59601467	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59834873	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60362869	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60827294	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61326230	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61422480	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62521806	0.80[EUR][1000 genomes]
rs62521807	0.80[EUR][1000 genomes]
rs62521825	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62521826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62521841	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6983795	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988636	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6989108	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7002021	1.00[CEU][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7002332	0.88[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339658	0.86[EUR][1000 genomes]
rs73339686	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9987352	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9987357	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124178800-124194000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:124179800-124186000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:124181000-124186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:124181000-124186400	Weak transcription	HMEC	breast
5	chr8:124181200-124186400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:124181400-124186000	Weak transcription	Esophagus	oesophagus
7	chr8:124181400-124188600	Enhancers	K562	blood
8	chr8:124184600-124188400	Enhancers	Hela-S3	cervix
9	chr8:124185200-124186200	Enhancers	HepG2	liver
10	chr8:124185200-124187200	Enhancers	A549	lung
11	chr8:124185800-124186400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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