Variant report

Variant	rs59181716
Chromosome Location	chr14:69940829-69940830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69863307..69865409-chr14:69940498..69943105,2	MCF-7	breast:
2	chr14:69940565..69944198-chr14:69948650..69951872,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175985	Chromatin interaction
ENSG00000100632	Chromatin interaction
ENSG00000029364	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10130642	0.89[AMR][1000 genomes]
rs10131686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137655	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10137668	0.97[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	0.98[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	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12147999	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12185028	0.84[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]
rs55751520	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57148905	0.82[AMR][1000 genomes]
rs57675317	0.82[AMR][1000 genomes]
rs57941356	0.81[AMR][1000 genomes]
rs59116152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60238702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61436917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61564515	1.00[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	0.81[AFR][1000 genomes];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	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs72723847	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs72723850	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs72723857	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74061833	0.86[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:7 , 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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69923600-69950400	Weak transcription	Gastric	stomach
2	chr14:69925400-69942000	Weak transcription	Spleen	Spleen
3	chr14:69928000-69941000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:69928600-69950600	Weak transcription	Aorta	Aorta
5	chr14:69928800-69941000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:69929000-69941400	Weak transcription	Ovary	ovary
7	chr14:69940000-69941000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:69940400-69941200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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