Variant report

Variant	rs4930927
Chromosome Location	chr12:30596111-30596112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10734788	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10743716	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10743718	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10771721	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10771722	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10771723	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843754	0.83[ASN][1000 genomes]
rs1506371	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1506384	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1506385	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876183	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2221167	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931337	0.84[ASN][1000 genomes]
rs4931338	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301133	0.84[AMR][1000 genomes];0.81[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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1045252	chr12:30583170-30621743	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1050233	chr12:30590071-30670919	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30590800-30596400	Weak transcription	Right Atrium	heart
2	chr12:30592600-30600000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:30593000-30602400	Weak transcription	Liver	Liver
4	chr12:30594000-30596200	Weak transcription	Fetal Heart	heart
5	chr12:30594800-30596800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:30594800-30600200	Weak transcription	Spleen	Spleen
7	chr12:30595000-30596200	Weak transcription	Fetal Stomach	stomach

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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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