Variant report

Variant	rs28431782
Chromosome Location	chr16:48140623-48140624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48138085..48139717-chr16:48139752..48142021,2	K562	blood:
2	chr16:48137959..48140950-chr16:48152049..48153579,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11861448	1.00[EUR][1000 genomes]
rs11864016	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864570	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12103132	1.00[EUR][1000 genomes]
rs13330281	1.00[EUR][1000 genomes]
rs13330882	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13331266	1.00[EUR][1000 genomes]
rs13333718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13334423	1.00[EUR][1000 genomes]
rs13334475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13335010	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1345425	1.00[EUR][1000 genomes]
rs16945786	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16945813	1.00[EUR][1000 genomes]
rs16945816	1.00[EUR][1000 genomes]
rs16945819	1.00[EUR][1000 genomes]
rs16945824	1.00[EUR][1000 genomes]
rs16945828	1.00[EUR][1000 genomes]
rs16945831	1.00[EUR][1000 genomes]
rs16945835	1.00[EUR][1000 genomes]
rs16945839	1.00[EUR][1000 genomes]
rs16945860	1.00[EUR][1000 genomes]
rs2016940	1.00[EUR][1000 genomes]
rs28526661	1.00[EUR][1000 genomes]
rs28531369	1.00[EUR][1000 genomes]
rs28587611	1.00[EUR][1000 genomes]
rs28592871	1.00[EUR][1000 genomes]
rs28669266	1.00[EUR][1000 genomes]
rs34106426	1.00[EUR][1000 genomes]
rs4785405	1.00[EUR][1000 genomes]
rs56093600	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57124014	1.00[EUR][1000 genomes]
rs57432729	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57740199	1.00[EUR][1000 genomes]
rs58204235	1.00[EUR][1000 genomes]
rs58622309	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59311846	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59312258	1.00[EUR][1000 genomes]
rs59466391	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59528776	1.00[EUR][1000 genomes]
rs59766379	1.00[EUR][1000 genomes]
rs59832329	1.00[EUR][1000 genomes]
rs59966196	1.00[EUR][1000 genomes]
rs6500304	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6500305	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187069	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7197701	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203314	1.00[EUR][1000 genomes]
rs73540833	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73540845	1.00[EUR][1000 genomes]
rs73540853	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018249	1.00[EUR][1000 genomes]
rs74018255	1.00[EUR][1000 genomes]
rs8046592	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8048367	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8056411	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs8056553	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8058288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9302750	1.00[EUR][1000 genomes]
rs939360	1.00[EUR][1000 genomes]
rs939362	1.00[EUR][1000 genomes]
rs961668	1.00[EUR][1000 genomes]
rs9925287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926338	1.00[EUR][1000 genomes]
rs9933094	1.00[EUR][1000 genomes]
rs9933277	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935027	1.00[EUR][1000 genomes]
rs9936500	1.00[EUR][1000 genomes]
rs9936532	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938810	1.00[EUR][1000 genomes]
rs9940987	1.00[EUR][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	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr16:48136200-48141600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:48138000-48143000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr16:48139200-48151000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:48139800-48141000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr16:48139800-48142800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:48140000-48141000	Enhancers	Fetal Brain Male	brain
7	chr16:48140400-48141200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:48140600-48141000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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