Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16436632..16438927-chr21:16717385..16721623,5	MCF-7	breast:
2	chr21:16718523..16720063-chr21:16723879..16725666,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10211859	0.86[EUR][1000 genomes]
rs17241270	0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[EUR][1000 genomes]
rs2049835	0.86[EUR][1000 genomes]
rs2049882	0.86[EUR][1000 genomes]
rs2091947	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2823234	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2823235	0.86[EUR][1000 genomes]
rs2823236	0.86[EUR][1000 genomes]
rs2823237	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2823238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823239	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823242	0.83[EUR][1000 genomes]
rs2823244	0.97[EUR][1000 genomes]
rs28478640	0.84[EUR][1000 genomes]
rs6517365	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6517383	0.86[EUR][1000 genomes]
rs7278751	0.86[EUR][1000 genomes]
rs7279326	0.90[EUR][1000 genomes]
rs7281880	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs8128176	0.86[EUR][1000 genomes]
rs9980544	0.82[EUR][1000 genomes]
rs9981613	0.90[EUR][1000 genomes]
rs9982882	0.84[EUR][1000 genomes]
rs9982903	0.86[EUR][1000 genomes]
rs9983155	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1812556	chr21:16690063-16736368	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv834049	chr21:16717421-16905300	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16717800-16720000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:16718400-16720000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

Quick Search: