Variant report

Variant	rs55751520
Chromosome Location	chr14:69948139-69948140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69947861..69950985-chr14:69958572..69961159,3	MCF-7	breast:
2	chr14:69947992..69950774-chr14:69962839..69965833,3	K562	blood:
3	chr14:69947992..69950774-chr14:69962839..69965276,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10130642	0.89[AMR][1000 genomes]
rs10131686	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137655	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10137668	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142738	0.89[AMR][1000 genomes]
rs10148090	0.96[AMR][1000 genomes]
rs10150434	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11158808	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11620664	0.96[AMR][1000 genomes]
rs11622130	0.93[AMR][1000 genomes]
rs11624753	0.96[AMR][1000 genomes]
rs11626070	0.96[AMR][1000 genomes]
rs11844803	0.93[AMR][1000 genomes]
rs12147167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147518	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12147983	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12147999	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12185028	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs12385913	0.93[AMR][1000 genomes]
rs17106979	0.96[AMR][1000 genomes]
rs1952255	0.89[AMR][1000 genomes]
rs2061087	0.84[EUR][1000 genomes]
rs2061088	0.93[AMR][1000 genomes]
rs2168241	0.93[AMR][1000 genomes]
rs28616724	0.93[AMR][1000 genomes]
rs28791926	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55708330	0.89[EUR][1000 genomes]
rs57148905	0.82[AMR][1000 genomes]
rs57675317	0.82[AMR][1000 genomes]
rs57941356	0.81[AMR][1000 genomes]
rs59116152	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59181716	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60238702	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61436917	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61564515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143230	0.93[AMR][1000 genomes]
rs7152301	0.83[AMR][1000 genomes]
rs7155178	0.93[AMR][1000 genomes]
rs72722198	0.82[AMR][1000 genomes]
rs72722199	0.82[AMR][1000 genomes]
rs72723815	0.93[AMR][1000 genomes]
rs72723830	0.96[AMR][1000 genomes]
rs72723840	0.96[AMR][1000 genomes]
rs72723847	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs72723850	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs72723857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74061833	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016618	0.95[AMR][1000 genomes]
rs9630395	0.96[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3396933	chr14:69906914-70001258	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1048882	chr14:69920881-69976694	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052107	chr14:69922552-69969297	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1039230	chr14:69922552-69972002	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1039192	chr14:69922552-69976694	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv456335	chr14:69928307-69971598	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv564967	chr14:69928307-69971598	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1050258	chr14:69942127-69976694	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	6 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	chr14:69923600-69950400	Weak transcription	Gastric	stomach
2	chr14:69928600-69950600	Weak transcription	Aorta	Aorta
3	chr14:69948000-69948800	Enhancers	GM12878-XiMat	blood
4	chr14:69948000-69949400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
5	chr14:69948000-69950000	Enhancers	Skeletal Muscle Female	skeletal muscle

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