Variant report

Variant	rs59135537
Chromosome Location	chr5:50219555-50219556
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:50215584..50218539-chr5:50219483..50221436,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10434565	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10805506	0.85[ASN][1000 genomes]
rs10940613	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12523135	0.91[ASN][1000 genomes]
rs12657116	0.88[ASN][1000 genomes]
rs12658921	0.96[ASN][1000 genomes]
rs12659587	0.84[ASN][1000 genomes]
rs13162201	0.96[ASN][1000 genomes]
rs13177246	0.84[ASN][1000 genomes]
rs1423227	0.82[ASN][1000 genomes]
rs16888260	1.00[EUR][1000 genomes]
rs2289879	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2289880	0.84[ASN][1000 genomes]
rs250216	0.84[ASN][1000 genomes]
rs35192063	0.84[ASN][1000 genomes]
rs35477295	0.84[ASN][1000 genomes]
rs35894462	0.84[ASN][1000 genomes]
rs4866019	0.84[ASN][1000 genomes]
rs4866020	0.84[ASN][1000 genomes]
rs71615992	0.93[ASN][1000 genomes]
rs71615994	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv830286	chr5:50165805-50374600	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1034194	chr5:50209649-50234259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 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	chr5:50218800-50219800	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:50219400-50219600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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