Variant report

Variant	rs1228930
Chromosome Location	chr7:84113372-84113373
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	chr7:84112762..84114363-chr7:84117900..84119846,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1014498	0.80[EUR][1000 genomes]
rs1029538	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1228897	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1228899	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1228902	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1228903	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1228904	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1228906	0.83[AMR][1000 genomes]
rs1228910	0.80[EUR][1000 genomes]
rs1228911	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1228918	0.83[AMR][1000 genomes]
rs1228921	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1228924	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1228925	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1228928	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1228941	0.84[AMR][1000 genomes]
rs1228968	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1228969	0.81[AMR][1000 genomes]
rs1228972	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1228973	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1228975	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1228977	0.80[EUR][1000 genomes]
rs1235296	0.83[AMR][1000 genomes]
rs2527524	0.80[EUR][1000 genomes]
rs9690554	0.80[AMR][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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84107600-84114800	Weak transcription	NHDF-Ad	bronchial
2	chr7:84107600-84116600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:84109200-84120000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:84112400-84113800	Weak transcription	A549	lung
5	chr7:84112800-84114000	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:84113000-84113800	Weak transcription	Rectal Smooth Muscle	rectum

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