Variant report

Variant	rs62309372
Chromosome Location	chr4:48300797-48300798
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:44726785..44729240-chr4:48300600..48303323,2	MCF-7	breast:
2	chr4:48295312..48297676-chr4:48299825..48301786,2	MCF-7	breast:
3	chr4:48294874..48299158-chr4:48300568..48304359,7	K562	blood:
4	chr4:48299110..48301166-chr4:48311658..48313371,2	K562	blood:

Variant related genes	Relation type
ENSG00000163281	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11723080	0.96[EUR][1000 genomes]
rs11947400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1812667	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2271265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs309887	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4695369	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55784928	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55860639	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62309366	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62309367	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62309371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62309393	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62309398	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62309399	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62309400	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62309401	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62309402	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62311477	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62311483	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62311497	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6833004	0.91[AMR][1000 genomes];0.96[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	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr4:48298800-48301400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:48299600-48301200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:48299800-48301600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:48300400-48309800	Weak transcription	Fetal Brain Male	brain
5	chr4:48300600-48300800	Enhancers	Osteobl	bone

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