Variant report

Variant	rs73264045
Chromosome Location	chr12:10796967-10796968
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs57880649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488315	0.84[AFR][1000 genomes]
rs7300889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264007	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264008	0.84[AFR][1000 genomes]
rs73264011	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264018	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73265915	0.88[AFR][1000 genomes]
rs73265916	0.80[AFR][1000 genomes]
rs7957167	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7966052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970214	1.00[AMR][1000 genomes]
rs7975199	0.96[AFR][1000 genomes];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	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv607	chr12:10776867-10821535	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	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	chr12:10787800-10797800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:10788600-10797400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:10790600-10799200	Weak transcription	Esophagus	oesophagus
4	chr12:10794600-10797400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:10794800-10797400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:10795200-10797600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:10796600-10797000	Enhancers	HUVEC	blood vessel

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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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