Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:9850271..9852517-chr2:9853774..9855814,2	K562	blood:
2	chr2:9854729..9857337-chr2:9862471..9865403,2	K562	blood:
3	chr2:9852433..9855684-chr2:9858975..9863152,3	K562	blood:
4	chr2:9768227..9771098-chr2:9853495..9855251,2	MCF-7	breast:
5	chr2:9843482..9849818-chr2:9850036..9855209,6	K562	blood:
6	chr2:9768827..9772681-chr2:9851903..9856866,5	K562	blood:
7	chr2:9851396..9853236-chr2:9853754..9855301,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1004488	1.00[EUR][1000 genomes]
rs10188428	1.00[EUR][1000 genomes]
rs10200454	1.00[EUR][1000 genomes]
rs10208526	1.00[EUR][1000 genomes]
rs10469619	1.00[EUR][1000 genomes]
rs11685143	1.00[EUR][1000 genomes]
rs11900302	1.00[EUR][1000 genomes]
rs11901478	1.00[EUR][1000 genomes]
rs13392859	1.00[EUR][1000 genomes]
rs13392861	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13417294	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13420034	1.00[EUR][1000 genomes]
rs16867063	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16867103	1.00[EUR][1000 genomes]
rs16867145	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4327210	1.00[EUR][1000 genomes]
rs56832685	1.00[EUR][1000 genomes]
rs57119165	1.00[EUR][1000 genomes]
rs58377484	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59042599	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59457002	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60115192	1.00[EUR][1000 genomes]
rs73155171	1.00[EUR][1000 genomes]
rs73164230	1.00[EUR][1000 genomes]
rs73164231	1.00[EUR][1000 genomes]
rs73164234	1.00[EUR][1000 genomes]
rs73164238	1.00[EUR][1000 genomes]
rs73164239	1.00[EUR][1000 genomes]
rs73164242	1.00[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	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 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	chr2:9845400-9860600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:9851400-9855400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:9852800-9855400	Weak transcription	Right Atrium	heart
4	chr2:9854200-9856200	Enhancers	K562	blood
5	chr2:9854600-9855800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:9854800-9855000	Enhancers	Placenta	Placenta
7	chr2:9854800-9855800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:9854800-9855800	Enhancers	Fetal Heart	heart

Quick Search: