Variant report

Variant	rs12742448
Chromosome Location	chr1:79982613-79982614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr1:79982095-79982714	A549	lung:	n/a	n/a
2	FOXA2	chr1:79982215-79982638	A549	lung:	n/a	n/a

Variant related genes	Relation type
ADH5P2	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11588913	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12727530	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12727721	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12739748	0.92[ASN][1000 genomes]
rs12739762	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12754109	0.82[ASN][1000 genomes]
rs1494843	0.89[ASN][1000 genomes]
rs1494856	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17418410	0.87[ASN][1000 genomes]
rs17418579	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17453037	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2132055	0.87[ASN][1000 genomes]
rs2934867	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3015120	0.80[ASN][1000 genomes]
rs34322872	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34763301	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35446319	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35624469	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35938583	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4506421	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4604653	0.87[ASN][1000 genomes]
rs58635031	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59395170	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61031256	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004014	chr1:79811049-80042309	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1012004	chr1:79945395-80096748	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv535017	chr1:79945395-80096748	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1012296	chr1:79945395-80300216	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1005022	chr1:79950774-80106902	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv546636	chr1:79964823-80079996	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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