Variant report

Variant	rs16996281
Chromosome Location	chr20:15634864-15634865
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	chr20:15471920..15472855-chr20:15634516..15635330,3	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10485532	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10485533	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10485537	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs115021	1.00[AFR][1000 genomes]
rs12480105	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs12480191	0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12480578	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12480842	0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16996280	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16996282	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16996284	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16996288	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16996289	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs375604	1.00[AFR][1000 genomes]
rs421304	1.00[AFR][1000 genomes]
rs457392	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs457433	1.00[AFR][1000 genomes]
rs457476	1.00[AFR][1000 genomes]
rs457829	1.00[AFR][1000 genomes]
rs457904	1.00[AFR][1000 genomes]
rs458093	1.00[AFR][1000 genomes]
rs458524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs459056	1.00[AFR][1000 genomes]
rs459506	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs460829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs460848	1.00[AFR][1000 genomes]
rs461032	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs461306	1.00[AFR][1000 genomes]
rs461363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs461414	1.00[AFR][1000 genomes]
rs461619	1.00[AFR][1000 genomes]
rs462116	1.00[AFR][1000 genomes]
rs463057	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs463172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs463243	1.00[AFR][1000 genomes]
rs464004	1.00[AFR][1000 genomes]
rs464279	1.00[AFR][1000 genomes]
rs465172	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs466379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs466871	1.00[AFR][1000 genomes]
rs6034247	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2751909	chr20:15489871-15656007	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv833928	chr20:15619962-15780758	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15630400-15636400	Weak transcription	NHDF-Ad	bronchial
2	chr20:15631000-15636200	Weak transcription	Colon Smooth Muscle	Colon
3	chr20:15634000-15641200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr20:15634200-15637200	Enhancers	Fetal Heart	heart
5	chr20:15634400-15635200	Enhancers	Primary B cells from peripheral blood	blood
6	chr20:15634400-15635400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr20:15634400-15635600	Weak transcription	Fetal Kidney	kidney
8	chr20:15634600-15635200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr20:15634600-15635400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr20:15634600-15635600	Enhancers	Brain Hippocampus Middle	brain
11	chr20:15634800-15636200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr20:15634800-15637400	Enhancers	Osteobl	bone

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