Variant report

Variant	rs72960294
Chromosome Location	chr3:52812027-52812028
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17052424	0.84[AFR][1000 genomes]
rs57607481	0.81[AFR][1000 genomes]
rs57787182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59227741	1.00[AMR][1000 genomes]
rs72954371	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72960288	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv834698	chr3:52749983-52928219	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	esv2762328	chr3:52774884-53002150	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1010761	chr3:52804547-52851258	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr3:52805600-52825800	Weak transcription	Right Ventricle	heart
2	chr3:52810200-52812200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:52810200-52812400	Weak transcription	Fetal Heart	heart
4	chr3:52810200-52816600	Enhancers	HepG2	liver
5	chr3:52810800-52815600	Weak transcription	Fetal Thymus	thymus
6	chr3:52811000-52812600	Active TSS	Liver	Liver
7	chr3:52811000-52812600	Enhancers	Pancreas	Pancrea
8	chr3:52811600-52812200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:52811600-52813600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:52811600-52814000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:52812000-52813200	Enhancers	Primary hematopoietic stem cells	blood
12	chr3:52812000-52815600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr3:52812000-52816200	Enhancers	Monocytes-CD14+_RO01746	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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