Variant report

Variant	rs4519125
Chromosome Location	chr12:60399702-60399703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10784018	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10784021	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10877374	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10877379	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10877382	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10877384	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10877400	0.85[AMR][1000 genomes]
rs1493307	0.85[AMR][1000 genomes]
rs2364701	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2364702	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4269958	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4283019	0.85[AMR][1000 genomes]
rs4509803	0.83[AMR][1000 genomes]
rs4519124	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4641518	0.85[AMR][1000 genomes]
rs6581289	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581291	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6581292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7299084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7301616	0.85[AMR][1000 genomes]
rs7304102	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8181702	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs965427	0.92[AFR][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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv516042	chr12:60354307-60459370	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv899136	chr12:60373244-60483607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv559103	chr12:60383069-60483607	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	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	chr12:60377400-60403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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