Variant report

Variant	rs12728761
Chromosome Location	chr1:86927845-86927846
allele	C/G
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]
rs1407142	0.85[ASN][1000 genomes]
rs34976256	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753276	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[ASN][1000 genomes]
rs4001077	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4656112	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4656113	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs926065	0.85[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	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86914600-86930800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:86917000-86930600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:86922600-86930800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:86926600-86929400	Enhancers	Fetal Thymus	thymus
5	chr1:86927000-86932000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:86927000-86934200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:86927000-86934600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:86927600-86928200	Enhancers	K562	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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