Variant report

Variant	rs1988511
Chromosome Location	chr4:142942002-142942003
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10018891	1.00[EUR][1000 genomes]
rs10519621	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs173060	0.90[EUR][1000 genomes]
rs1845971	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1912713	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1912714	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1912715	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1988510	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2645809	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2645825	1.00[EUR][1000 genomes]
rs2645827	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2645828	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2667082	1.00[EUR][1000 genomes]
rs2667087	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2667088	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2667089	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2667090	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2667091	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2667120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336337	1.00[EUR][1000 genomes]
rs336338	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs336339	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs336340	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs336341	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs336343	1.00[EUR][1000 genomes]
rs336344	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs336345	0.82[CEU][hapmap];1.00[EUR][1000 genomes]
rs336347	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs336348	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs336351	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336352	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336354	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336355	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336356	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336357	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336358	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336359	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336360	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs336362	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs336363	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs337232	0.90[EUR][1000 genomes]
rs6848572	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	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv830096	chr4:142867099-143023761	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142940600-142948400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:142941800-142957800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:142942000-142953200	Weak transcription	Right Ventricle	heart

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