Variant report

Variant	rs73387131
Chromosome Location	chr12:86535847-86535848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12099749	1.00[AMR][1000 genomes]
rs12099863	1.00[AMR][1000 genomes]
rs59669640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59976763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73379414	1.00[AMR][1000 genomes]
rs73382004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73385208	1.00[AMR][1000 genomes]
rs73385597	1.00[AMR][1000 genomes]
rs73387125	1.00[AMR][1000 genomes]
rs73387209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73387213	1.00[AMR][1000 genomes]
rs73387277	1.00[AMR][1000 genomes]
rs73392030	1.00[AMR][1000 genomes]
rs73396190	1.00[AMR][1000 genomes]
rs73398105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398184	1.00[AMR][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	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv470311	chr12:86484366-86550783	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3442004	chr12:86514695-86599965	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2753278	chr12:86522507-86555154	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86529800-86538800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:86530400-86538800	Weak transcription	Brain Germinal Matrix	brain
3	chr12:86532800-86538000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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

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