Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:129605104..129607003-chr7:129615117..129617382,2	MCF-7	breast:
2	chr7:129589382..129590984-chr7:129615027..129617331,2	MCF-7	breast:
3	chr7:129612567..129615373-chr7:129615760..129618234,2	K562	blood:
4	chr7:129592821..129598276-chr7:129615351..129619304,4	K562	blood:
5	chr7:129610210..129612091-chr7:129616176..129618728,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244036	Chromatin interaction
ENSG00000199516	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10231719	0.82[AMR][1000 genomes]
rs10246708	1.00[ASN][1000 genomes]
rs10247295	1.00[ASN][1000 genomes]
rs10271407	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177773	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28563772	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4580987	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4606000	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56990459	0.80[AMR][1000 genomes]
rs59117588	0.82[EUR][1000 genomes]
rs62489404	0.82[AMR][1000 genomes]
rs6467273	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467274	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6945757	1.00[ASN][1000 genomes]
rs6949020	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959601	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975656	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975965	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805545	1.00[ASN][1000 genomes]
rs7805829	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129598800-129629600	Weak transcription	Right Atrium	heart
2	chr7:129614200-129617600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:129614400-129617400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:129614600-129623800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:129615600-129623800	Weak transcription	Hela-S3	cervix
6	chr7:129615800-129617200	Weak transcription	HepG2	liver
7	chr7:129616600-129616800	Enhancers	A549	lung
8	chr7:129616600-129618800	Enhancers	Placenta	Placenta

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