Variant report

Variant	rs12621279
Chromosome Location	chr2:31342300-31342301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12611788	0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12614812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621308	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998805	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13032050	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2886304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31310600-31346800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:31329200-31348200	Weak transcription	A549	lung
3	chr2:31332400-31347400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:31332600-31348600	Weak transcription	NHEK	skin
5	chr2:31332600-31348800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:31332600-31349000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:31332600-31349000	Weak transcription	HMEC	breast
8	chr2:31332800-31346600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:31335200-31344600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:31336400-31343800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:31336600-31345000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:31337000-31345800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:31337200-31347800	Weak transcription	Brain Germinal Matrix	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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