Variant report

Variant	rs2721346
Chromosome Location	chr7:120516045-120516046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120510182..120513109-chr7:120515595..120517982,2	K562	blood:
2	chr7:120510182..120511734-chr7:120515321..120517095,2	K562	blood:
3	chr7:120496297..120499489-chr7:120513348..120516130,3	K562	blood:
4	chr7:120496948..120499471-chr7:120515505..120517230,2	MCF-7	breast:
5	chr7:120512345..120514734-chr7:120515896..120518149,2	K562	blood:

Variant related genes	Relation type
ENSG00000106025	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs114420	0.86[ASN][1000 genomes]
rs11976580	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154976	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12673417	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17132731	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17142976	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[ASN][1000 genomes]
rs17143001	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs17143009	0.80[CEU][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs17143013	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2097806	0.80[CEU][hapmap]
rs2189974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2525705	0.94[CEU][hapmap]
rs2525706	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2525710	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721329	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721330	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721344	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721347	0.84[CEU][hapmap]
rs2721348	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721360	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721371	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41613	0.93[ASN][1000 genomes]
rs41616	0.93[ASN][1000 genomes]
rs41617	0.93[ASN][1000 genomes]
rs41622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41623	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41626	0.93[ASN][1000 genomes]
rs42333	0.93[ASN][1000 genomes]
rs4730982	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs55733320	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55749650	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56023697	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56067931	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61481874	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67679138	0.93[ASN][1000 genomes]
rs714259	0.84[CEU][hapmap]
rs73427862	0.84[EUR][1000 genomes]
rs73427871	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73427873	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73427878	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73721472	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7805733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7810542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs886440	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120508600-120518200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:120512000-120521800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:120515200-120516200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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