Variant report

Variant	rs12538483
Chromosome Location	chr7:120524709-120524710
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10085399	1.00[AMR][1000 genomes]
rs10085545	1.00[AMR][1000 genomes]
rs10156133	1.00[AMR][1000 genomes]
rs10227371	1.00[AMR][1000 genomes]
rs10228463	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231429	1.00[AMR][1000 genomes]
rs10239339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241872	1.00[AMR][1000 genomes]
rs10243869	1.00[AMR][1000 genomes]
rs10249042	0.80[AFR][1000 genomes]
rs10256185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10260155	1.00[AMR][1000 genomes]
rs10269373	1.00[AMR][1000 genomes]
rs10277685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10281679	1.00[AMR][1000 genomes]
rs12531744	1.00[AMR][1000 genomes]
rs12537910	1.00[AMR][1000 genomes]
rs12539312	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12539365	1.00[AMR][1000 genomes]
rs12540028	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12540031	1.00[AMR][1000 genomes]
rs28366865	1.00[AMR][1000 genomes]
rs28545438	1.00[AMR][1000 genomes]
rs28582920	1.00[AMR][1000 genomes]
rs28627810	1.00[AMR][1000 genomes]
rs28676720	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28696320	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6946429	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6959281	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6966333	1.00[AMR][1000 genomes]
rs6970044	1.00[AMR][1000 genomes]
rs7791680	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS 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	16 gene(s)	inside rSNPs	diseases
2	esv274964	chr7:120522471-120549440	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120523200-120525400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:120524400-120524800	Enhancers	Stomach Smooth Muscle	stomach
3	chr7:120524400-120525000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:120524400-120525400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:120524400-120525800	Enhancers	Fetal Heart	heart

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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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