Variant report

Variant	rs7994671
Chromosome Location	chr13:38531848-38531849
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:38504087..38506556-chr13:38530697..38533527,2	K562	blood:
2	chr13:38531197..38532873-chr13:38538137..38539849,2	K562	blood:
3	chr13:38523391..38525686-chr13:38530354..38532093,2	K562	blood:
4	chr13:38515658..38518937-chr13:38531809..38534635,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12429858	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1337594	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1337605	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1337607	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1415599	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1415628	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1556781	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2210979	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2485286	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2485291	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2485483	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34544559	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4943548	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4943551	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6563572	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6563573	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6563574	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71423167	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7322764	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7327323	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7336052	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7992543	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7994826	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs817729	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9315526	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs945858	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs945859	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9548093	0.81[EUR][1000 genomes]
rs9548104	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9548107	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9548108	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9548109	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9566279	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9576402	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576405	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576406	0.82[EUR][1000 genomes];0.81[ASN][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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv899996	chr13:38459224-38577056	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv899998	chr13:38480878-38582178	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38531400-38532400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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