Variant report

Variant	rs17028770
Chromosome Location	chr4:100189327-100189328
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12697	1.00[GIH][hapmap]
rs17028758	1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17588761	1.00[MEX][hapmap]
rs2018417	1.00[AMR][1000 genomes]
rs2051429	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28364314	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28720156	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28730611	0.83[AMR][1000 genomes]
rs28730644	1.00[GIH][hapmap];0.85[TSI][hapmap]
rs28730646	1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes]
rs28894371	0.83[AMR][1000 genomes]
rs28914786	1.00[AMR][1000 genomes]
rs29001228	0.83[AMR][1000 genomes]
rs29001338	0.83[AMR][1000 genomes]
rs29001342	0.83[AMR][1000 genomes]
rs55963727	1.00[AMR][1000 genomes]
rs57028254	0.87[EUR][1000 genomes]
rs57351530	1.00[EUR][1000 genomes]
rs58168287	0.87[EUR][1000 genomes]
rs59626468	0.87[EUR][1000 genomes]
rs62325201	0.83[AMR][1000 genomes]
rs62325204	0.83[AMR][1000 genomes]
rs62325212	0.83[AMR][1000 genomes]
rs62325213	0.83[AMR][1000 genomes]
rs62325239	0.83[AMR][1000 genomes]
rs62325245	0.83[AMR][1000 genomes]
rs6815396	0.87[EUR][1000 genomes]
rs6827292	1.00[GIH][hapmap];0.85[TSI][hapmap]
rs73835043	0.88[EUR][1000 genomes]
rs7669660	1.00[GIH][hapmap]
rs7681427	1.00[GIH][hapmap];0.85[TSI][hapmap]
rs7687322	1.00[GIH][hapmap];0.85[TSI][hapmap]
rs7692198	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs924195	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3355763	chr4:100070566-100376814	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1014237	chr4:100102701-100365700	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1010988	chr4:100105463-100444445	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1000659	chr4:100117276-100444445	Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv999549	chr4:100121609-100351749	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3353320	chr4:100147870-100425701	Genic enhancers ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3394995	chr4:100147890-100425671	Enhancers Genic enhancers Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17028770	ADH5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100186600-100197400	Weak transcription	Fetal Lung	lung
2	chr4:100188800-100189400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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