Variant report

Variant	rs17518622
Chromosome Location	chr3:25227079-25227080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12152294	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17517413	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17517455	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17517778	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17517875	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17576595	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17576629	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17576864	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17577191	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17577540	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17578294	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55750806	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55809331	1.00[AFR][1000 genomes]
rs55864034	1.00[AFR][1000 genomes]
rs56034169	1.00[AFR][1000 genomes]
rs56127830	1.00[AFR][1000 genomes]
rs56150061	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73042334	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73042350	1.00[AFR][1000 genomes]
rs73042352	1.00[AFR][1000 genomes]
rs73044253	1.00[AFR][1000 genomes]
rs73044255	1.00[AFR][1000 genomes]
rs73044259	1.00[AFR][1000 genomes]
rs73044279	1.00[AFR][1000 genomes]
rs73044296	1.00[AFR][1000 genomes]
rs73048410	1.00[AFR][1000 genomes]
rs73048413	1.00[AFR][1000 genomes]
rs73048442	0.83[EUR][1000 genomes]
rs73048447	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73048450	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73049954	1.00[AFR][1000 genomes]
rs73049956	1.00[AFR][1000 genomes]
rs73050322	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73050329	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73050336	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73050338	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73050339	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73050340	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73050349	0.88[EUR][1000 genomes]
rs73050358	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73050366	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73050373	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73052497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73054309	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73054326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73054328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv876631	chr3:25185448-25231571	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv949035	chr3:25194301-26084890	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
3	nsv508213	chr3:25206150-25326196	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17518622	ZNF385D	cis	parietal	SCAN
rs17518622	NR1D2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:25225200-25229000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:25225600-25228600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:25225800-25227400	Enhancers	Fetal Lung	lung

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