Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr14:97405524-97407189	MCF-7	breast:	n/a	chr14:97406538-97406558 chr14:97406546-97406556 chr14:97406538-97406558 chr14:97406539-97406557 chr14:97406544-97406558 chr14:97406538-97406558 chr14:97406541-97406554 chr14:97405914-97405934

No.	Distal block	Cell Line	Cell type
1	chr14:97405161..97406665-chr14:97409416..97411727,2	K562	blood:
2	chr14:97405165..97407109-chr14:97408792..97410958,3	K562	blood:
3	chr14:97400013..97402881-chr14:97403684..97406514,2	K562	blood:

Variant related genes	Relation type
LINC00618	TF binding region
ENSG00000225163	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10147597	1.00[EUR][1000 genomes]
rs10150685	0.97[EUR][1000 genomes]
rs10150869	1.00[EUR][1000 genomes]
rs12434466	1.00[TSI][hapmap]
rs17094640	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17094648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17094651	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17094663	1.00[EUR][1000 genomes]
rs17094665	0.97[EUR][1000 genomes]
rs17094678	1.00[EUR][1000 genomes]
rs17094682	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17094734	0.80[AMR][1000 genomes]
rs17094747	0.80[AMR][1000 genomes]
rs2224442	0.88[TSI][hapmap]
rs28363869	1.00[EUR][1000 genomes]
rs57672244	0.97[EUR][1000 genomes]
rs58881967	0.97[EUR][1000 genomes]
rs59373873	0.80[AMR][1000 genomes]
rs60006953	1.00[EUR][1000 genomes]
rs61981037	0.82[ASN][1000 genomes]
rs746127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8015032	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs856252	0.89[ASN][1000 genomes]
rs856256	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv948620	chr14:97334444-98133191	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv832867	chr14:97365919-97541763	Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97379400-97411800	Weak transcription	Primary T cells from cord blood	blood
2	chr14:97398000-97412800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:97399200-97409600	Weak transcription	Dnd41	blood
4	chr14:97404600-97410400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:97405800-97406000	Enhancers	Spleen	Spleen

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