Variant report

Variant	rs11808696
Chromosome Location	chr1:227563680-227563681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11804271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806721	0.91[AMR][1000 genomes]
rs11807068	0.91[AMR][1000 genomes]
rs11807375	0.91[AMR][1000 genomes]
rs11807425	0.91[AMR][1000 genomes]
rs11807957	0.91[AMR][1000 genomes]
rs11808210	0.91[AMR][1000 genomes]
rs11808670	0.91[AMR][1000 genomes]
rs11808674	0.83[AMR][1000 genomes]
rs11809905	0.85[AMR][1000 genomes]
rs11811620	0.91[AMR][1000 genomes]
rs11811982	0.98[EUR][1000 genomes]
rs11812048	0.91[AMR][1000 genomes]
rs35601687	0.91[AMR][1000 genomes]
rs55643926	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73102394	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9660532	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11808696	CDC42BPA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227545800-227571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:227557200-227565400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:227558600-227565400	Weak transcription	HSMMtube	muscle
4	chr1:227558600-227565600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:227559000-227565800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:227560000-227565200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:227560000-227565400	Weak transcription	K562	blood
8	chr1:227560600-227565400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:227561000-227565200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:227561200-227565400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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