Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:99393260-99393661	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:99393178..99396071-chr2:99408635..99411955,5	MCF-7	breast:
2	chr2:99347124..99349184-chr2:99391953..99393526,2	MCF-7	breast:
3	chr2:99384290..99389208-chr2:99389339..99394045,5	MCF-7	breast:
4	chr2:99391796..99394293-chr2:99395311..99397641,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs2090181	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2203432	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2871243	0.81[ASN][1000 genomes]
rs2871244	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3731660	0.81[ASN][1000 genomes]
rs4851160	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57185248	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59083513	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59313126	0.87[ASN][1000 genomes]
rs59989465	0.87[ASN][1000 genomes]
rs61311613	0.81[ASN][1000 genomes]
rs61402919	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72827726	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827727	0.87[ASN][1000 genomes]
rs72827728	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72827729	0.83[ASN][1000 genomes]
rs72827731	0.83[ASN][1000 genomes]
rs72827732	0.83[ASN][1000 genomes]
rs72827733	0.83[ASN][1000 genomes]
rs72827734	0.85[ASN][1000 genomes]
rs72827736	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72827739	0.81[ASN][1000 genomes]
rs72827740	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72827741	0.81[ASN][1000 genomes]
rs72827742	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72827743	0.81[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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr2:99385800-99394000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:99385800-99410400	Weak transcription	Right Atrium	heart
3	chr2:99389000-99393800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:99391000-99395400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:99391600-99406600	Weak transcription	Thymus	Thymus
6	chr2:99392400-99393800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:99392800-99396200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:99393000-99394400	Weak transcription	HepG2	liver

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