Variant report

Variant	rs6130103
Chromosome Location	chr20:40947721-40947722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1573707	0.81[CEU][hapmap]
rs2227157	0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2867030	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6016745	0.93[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6016749	0.87[CHB][hapmap]
rs6030133	0.89[AFR][1000 genomes]
rs6030137	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6030139	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs6072686	0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6072687	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6093615	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6093618	0.93[AFR][1000 genomes]
rs6093622	0.93[AFR][1000 genomes]
rs6093623	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6102774	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6102775	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73273150	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv3351291	chr20:40922654-40950938	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv912874	chr20:40947084-40972949	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40945000-40957400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40947200-40947800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:40947200-40947800	Enhancers	Fetal Brain Male	brain
4	chr20:40947600-40948600	Weak transcription	Fetal Brain Female	brain
5	chr20:40947600-40949000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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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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