Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:223431564..223434363-chr1:223444284..223446683,2	MCF-7	breast:
2	chr1:223431021..223433765-chr1:223535205..223536885,2	MCF-7	breast:
3	chr1:223423415..223426395-chr1:223432368..223434793,2	MCF-7	breast:
4	chr1:223432400..223434848-chr1:223436145..223437894,2	K562	blood:

Variant related genes	Relation type
ENSG00000143502	Chromatin interaction

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

rs_ID	r²[population]
rs1400961	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1418150	0.85[EUR][1000 genomes]
rs1640846	0.90[EUR][1000 genomes]
rs1640849	0.90[EUR][1000 genomes]
rs17161988	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1773710	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1773713	0.90[EUR][1000 genomes]
rs3820596	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61837627	0.89[EUR][1000 genomes]
rs61837629	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61837630	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61837635	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs712857	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs712858	0.90[EUR][1000 genomes]
rs73122234	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs74145795	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs851196	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs851201	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs885279	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9442040	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1000039	chr1:223429733-223527845	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223423800-223439600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:223424200-223438800	Weak transcription	Ovary	ovary
3	chr1:223427400-223442000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:223431400-223433600	Enhancers	Fetal Intestine Large	intestine
5	chr1:223431800-223433400	Weak transcription	Primary T cells from cord blood	blood
6	chr1:223432200-223440200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:223432400-223442200	Weak transcription	Pancreas	Pancrea
8	chr1:223432600-223438800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:223433200-223444600	Weak transcription	Esophagus	oesophagus

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