Variant report

Variant	rs2483499
Chromosome Location	chr10:27569521-27569522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1144509	0.89[CHB][hapmap];0.85[ASN][1000 genomes]
rs1148169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1753385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1831186	0.96[ASN][1000 genomes]
rs1831187	0.83[CHB][hapmap];0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs1831188	0.83[ASN][1000 genomes]
rs2104670	0.94[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs2104671	0.91[ASN][1000 genomes]
rs2274636	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs2368221	0.96[ASN][1000 genomes]
rs2488368	0.91[ASN][1000 genomes]
rs2488369	0.91[ASN][1000 genomes]
rs2770200	0.81[ASN][1000 genomes]
rs2770201	0.89[CHB][hapmap];0.87[CHD][hapmap]
rs2780670	0.89[CHB][hapmap];0.87[CHD][hapmap]
rs2780671	0.89[CHB][hapmap]
rs2797080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2800393	0.83[CHB][hapmap];0.87[CHD][hapmap]
rs2800399	0.89[CHB][hapmap];0.87[CHD][hapmap]
rs2800407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35209475	1.00[AFR][1000 genomes]
rs4747595	0.88[CHB][hapmap]
rs510242	0.81[ASN][1000 genomes]
rs527192	0.89[ASN][1000 genomes]
rs576161	0.89[ASN][1000 genomes]
rs604705	0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs618050	0.89[ASN][1000 genomes]
rs623380	0.85[ASN][1000 genomes]
rs630317	0.96[ASN][1000 genomes]
rs640284	0.86[ASN][1000 genomes]
rs693965	0.93[ASN][1000 genomes]
rs788203	0.83[CHB][hapmap]
rs788215	0.89[CHB][hapmap];0.87[CHD][hapmap]
rs788216	0.89[CHB][hapmap];0.87[CHD][hapmap]
rs7902034	0.86[CHB][hapmap]
rs944909	0.81[ASN][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	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv550241	chr10:27569521-28025771	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2483499	MASTL	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27569400-27569600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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