Variant report

Variant	rs6030239
Chromosome Location	chr20:41066599-41066600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1125550	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11700137	0.91[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2049971	0.80[ASN][1000 genomes]
rs2142795	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2205945	0.93[CEU][hapmap];0.85[GIH][hapmap];0.81[AMR][1000 genomes]
rs2425492	0.85[ASN][1000 genomes]
rs2425494	0.83[ASN][1000 genomes]
rs2425498	0.83[ASN][1000 genomes]
rs4810356	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4812598	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4812600	0.84[EUR][1000 genomes]
rs6016785	0.92[CEU][hapmap];0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6016791	0.88[CHD][hapmap]
rs6016792	0.85[EUR][1000 genomes]
rs6030212	0.80[ASN][1000 genomes]
rs6030215	0.90[CEU][hapmap]
rs6030216	0.86[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6030217	0.86[CEU][hapmap]
rs6030224	0.93[CEU][hapmap];0.81[AMR][1000 genomes]
rs6030229	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6030232	0.86[CEU][hapmap]
rs6030233	0.85[CEU][hapmap];0.81[AMR][1000 genomes]
rs6030236	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6030238	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6072745	0.81[AMR][1000 genomes]
rs6102826	0.85[CEU][hapmap]
rs6513791	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7268459	0.93[CEU][hapmap];0.81[AMR][1000 genomes]
rs8123429	1.00[CEU][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs932320	0.83[ASN][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	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv833987	chr20:41007663-41184914	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41042000-41070000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41066400-41067200	Enhancers	Fetal Muscle Leg	muscle

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