Variant report

Variant	rs1228933
Chromosome Location	chr7:84116117-84116118
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	chr7:84107857..84110395-chr7:84114744..84117396,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1029541	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10435465	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs11560406	0.81[ASN][1000 genomes]
rs11560407	0.81[ASN][1000 genomes]
rs11978829	0.98[ASN][1000 genomes]
rs1228859	0.89[CEU][hapmap]
rs1228860	0.90[CEU][hapmap]
rs1228898	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1228909	0.96[EUR][1000 genomes]
rs1228912	0.94[EUR][1000 genomes]
rs1228913	0.96[EUR][1000 genomes]
rs1228915	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1228916	0.96[EUR][1000 genomes]
rs1228919	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1228937	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1228938	0.96[EUR][1000 genomes]
rs1228939	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1228943	0.89[EUR][1000 genomes]
rs1228944	0.88[EUR][1000 genomes]
rs1228945	0.89[EUR][1000 genomes]
rs1228947	0.89[EUR][1000 genomes]
rs1228948	0.83[EUR][1000 genomes]
rs1228949	0.87[EUR][1000 genomes]
rs1228950	0.87[EUR][1000 genomes]
rs1228952	0.81[EUR][1000 genomes]
rs1228953	0.81[EUR][1000 genomes]
rs1228954	0.81[EUR][1000 genomes]
rs1228958	0.81[EUR][1000 genomes]
rs1228959	0.81[EUR][1000 genomes]
rs1228961	0.81[EUR][1000 genomes]
rs1228965	0.89[EUR][1000 genomes]
rs1228966	0.91[EUR][1000 genomes]
rs1234538	0.88[EUR][1000 genomes]
rs1235295	0.89[EUR][1000 genomes]
rs13223991	0.87[EUR][1000 genomes]
rs1634614	0.81[EUR][1000 genomes]
rs1715510	0.81[EUR][1000 genomes]
rs2079352	0.89[EUR][1000 genomes]
rs2527528	0.89[EUR][1000 genomes]
rs2706902	0.90[EUR][1000 genomes]
rs2706907	0.89[EUR][1000 genomes]
rs3094908	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs505758	0.82[CEU][hapmap]
rs57965929	0.84[ASN][1000 genomes]
rs6949793	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs73712927	0.85[ASN][1000 genomes]
rs757747	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9642180	0.97[ASN][1000 genomes]
rs9642182	0.85[ASN][1000 genomes]
rs9642183	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv534431	chr7:84001059-84138511	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv888634	chr7:84086502-84196258	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv888635	chr7:84086502-84344258	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84107600-84116600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:84109200-84120000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:84114000-84130600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:84114800-84116600	Strong transcription	NHDF-Ad	bronchial

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