Variant report

Variant	rs4394911
Chromosome Location	chr12:105493887-105493888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1044607	0.90[AFR][1000 genomes]
rs17036637	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17036655	0.83[AFR][1000 genomes]
rs17036660	0.97[AFR][1000 genomes]
rs17036668	0.88[AFR][1000 genomes]
rs17036687	0.93[AFR][1000 genomes]
rs17036722	0.90[AFR][1000 genomes]
rs58670310	0.83[AFR][1000 genomes]
rs59124570	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59586998	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60985863	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73395712	0.87[AMR][1000 genomes]
rs73395721	0.87[AMR][1000 genomes]
rs7968154	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 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	chr12:105492800-105494600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:105492800-105494600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:105493000-105494600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:105493200-105494400	Weak transcription	Stomach Mucosa	stomach
5	chr12:105493400-105494000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:105493600-105494000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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