Variant report

Variant	rs73600899
Chromosome Location	chr19:36165829-36165830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:36165826-36165902	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36133563..36135897-chr19:36163303..36166624,3	K562	blood:
2	chr19:36164296..36166526-chr19:36193906..36196237,2	K562	blood:
3	chr19:36133996..36135897-chr19:36164152..36166624,2	K562	blood:

Variant related genes	Relation type
UPK1A-AS1	TF binding region
ENSG00000105672	Chromatin interaction
ENSG00000011590	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs12459935	0.81[EUR][1000 genomes]
rs16970649	0.87[EUR][1000 genomes]
rs17776834	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2227278	0.93[EUR][1000 genomes]
rs2234360	0.93[EUR][1000 genomes]
rs2234375	0.91[EUR][1000 genomes]
rs2267585	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2267586	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2285420	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2311873	0.91[AMR][1000 genomes]
rs2871893	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2871894	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3817622	0.80[EUR][1000 genomes]
rs3893069	0.80[EUR][1000 genomes]
rs41361648	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4580318	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4992668	0.80[EUR][1000 genomes]
rs56849855	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57180990	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58255615	0.80[EUR][1000 genomes]
rs58496446	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58952294	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60264154	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61220012	0.81[EUR][1000 genomes]
rs61254015	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61351824	0.86[EUR][1000 genomes]
rs61375471	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73590543	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73590544	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73590559	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73590561	0.83[EUR][1000 genomes]
rs73590564	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73590568	0.93[EUR][1000 genomes]
rs73590576	0.91[EUR][1000 genomes]
rs73590585	0.90[EUR][1000 genomes]
rs73590598	0.80[EUR][1000 genomes]
rs73592416	0.80[EUR][1000 genomes]
rs73599271	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73599272	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73599274	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73599279	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73599281	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73599286	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73599289	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73600880	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73600881	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73600885	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73600892	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73600893	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73600896	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73602803	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73602804	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73602806	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73602823	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73602827	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73602832	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73602833	0.88[AMR][1000 genomes];0.94[EUR][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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv543995	chr19:36139204-36203592	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
6	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36164600-36166600	Weak transcription	Right Atrium	heart
2	chr19:36164800-36174600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:36164800-36181200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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