Variant report

Variant	rs6072686
Chromosome Location	chr20:40953812-40953813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16986766	0.80[MEX][hapmap]
rs2227157	0.82[CHD][hapmap]
rs2867030	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6016745	0.94[ASW][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6030133	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6030137	0.96[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6030139	0.94[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6072687	0.89[ASW][hapmap];0.84[CHD][hapmap];0.92[JPT][hapmap];0.93[LWK][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6093615	1.00[ASW][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6093617	0.82[AFR][1000 genomes]
rs6093618	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6093622	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6093623	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6102774	0.94[ASW][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6102775	0.94[ASW][hapmap];0.92[JPT][hapmap];0.95[LWK][hapmap];0.87[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6130103	0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs73273150	0.97[AFR][1000 genomes];0.82[AMR][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	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	nsv912874	chr20:40947084-40972949	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv523080	chr20:40949831-40964800	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv586004	chr20:40952914-40964972	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
6	nsv516291	chr20:40952914-40970090	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6072686	SUMF1	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40945000-40957400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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