Variant report

Variant	rs2823317
Chromosome Location	chr21:16873139-16873140
allele	G/T
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	POLR2A	chr21:16873114-16873246	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16864646..16867573-chr21:16872741..16874702,2	K562	blood:

Variant related genes	Relation type
ENSG00000224247	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10482873	1.00[EUR][1000 genomes]
rs11910098	1.00[EUR][1000 genomes]
rs2056895	1.00[EUR][1000 genomes]
rs2256239	1.00[EUR][1000 genomes]
rs2823314	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs2823315	1.00[EUR][1000 genomes]
rs2823316	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823336	1.00[EUR][1000 genomes]
rs2823339	1.00[EUR][1000 genomes]
rs2823388	1.00[EUR][1000 genomes]
rs2823391	1.00[EUR][1000 genomes]
rs28373635	1.00[EUR][1000 genomes]
rs28464100	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28593618	1.00[EUR][1000 genomes]
rs56093324	1.00[EUR][1000 genomes]
rs7278140	1.00[EUR][1000 genomes]
rs7278746	1.00[EUR][1000 genomes]
rs73343627	1.00[EUR][1000 genomes]
rs73343632	1.00[EUR][1000 genomes]
rs73343642	1.00[EUR][1000 genomes]
rs73348660	1.00[EUR][1000 genomes]
rs73350208	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350215	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350217	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350219	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73360728	1.00[EUR][1000 genomes]
rs9305643	1.00[EUR][1000 genomes]
rs9305644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9974347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9975955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9977402	1.00[EUR][1000 genomes]
rs9977408	1.00[EUR][1000 genomes]
rs9977669	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9980615	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9981733	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9983290	1.00[EUR][1000 genomes]
rs9984076	1.00[EUR][1000 genomes]
rs9984269	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834049	chr21:16717421-16905300	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv524022	chr21:16865946-16874741	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 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	chr21:16871200-16874800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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