Variant report

Variant	rs7053940
Chromosome Location	chrX:138722123-138722124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16993603	1.00[MEX][hapmap]
rs17002170	1.00[MEX][hapmap]
rs17002174	1.00[MEX][hapmap]
rs17002185	1.00[MEX][hapmap]
rs6634088	1.00[MEX][hapmap]
rs6634090	1.00[MEX][hapmap]
rs6635891	1.00[MEX][hapmap]
rs6635893	1.00[MEX][hapmap]
rs6635895	1.00[MEX][hapmap]
rs6654176	1.00[MEX][hapmap]
rs6654367	1.00[MEX][hapmap]

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	nsv532935	chrX:138281469-138764448	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv482267	chrX:138669319-138817041	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv532936	chrX:138687855-139384681	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:138720600-138722400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chrX:138721600-138722800	Active TSS	Brain Angular Gyrus	brain
3	chrX:138721800-138724200	Weak transcription	Brain Anterior Caudate	brain
4	chrX:138721800-138724200	Weak transcription	Brain Inferior Temporal Lobe	brain

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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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