Variant report

Variant	rs12244138
Chromosome Location	chr10:4179366-4179367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12243807	1.00[CHB][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12247651	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17258741	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998329	0.83[EUR][1000 genomes]
rs55640115	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68172044	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72776543	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72776549	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72776555	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72776556	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7897041	0.80[EUR][1000 genomes]
rs7912112	0.80[EUR][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	nsv1051297	chr10:3908706-4277678	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv831772	chr10:4039292-4212218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4174800-4179600	Weak transcription	HSMMtube	muscle
2	chr10:4174800-4187000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:4175000-4180000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:4177200-4179800	Enhancers	Primary B cells from peripheral blood	blood
5	chr10:4178000-4179400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr10:4178600-4179600	Enhancers	GM12878-XiMat	blood

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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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