Variant report

Variant	rs57173959
Chromosome Location	chr2:57828414-57828415
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10496072	0.83[ASN][1000 genomes]
rs11125726	0.84[ASN][1000 genomes]
rs17207557	0.85[ASN][1000 genomes]
rs17810870	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17812960	0.85[ASN][1000 genomes]
rs57465834	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58220533	0.84[ASN][1000 genomes]
rs6759367	0.86[ASN][1000 genomes]
rs68008184	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72935444	0.86[ASN][1000 genomes]
rs72935446	0.82[ASN][1000 genomes]
rs72950067	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559938	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:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999898	chr2:57193127-57901238	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535729	chr2:57193127-57901238	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834137	chr2:57683649-57913898	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv874193	chr2:57758608-58066673	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv874194	chr2:57793672-57896756	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	esv2760589	chr2:57805393-57831099	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
8	nsv874195	chr2:57808671-57855341	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1006688	chr2:57822953-58030203	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:57825000-57830200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:57825000-57830200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr2:57826000-57829800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:57826200-57828600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:57827000-57828600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:57827400-57828600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:57828000-57829600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:57828000-57831600	Weak transcription	Fetal Thymus	thymus
9	chr2:57828000-57842200	Weak transcription	Thymus	Thymus
10	chr2:57828200-57829000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:57828200-57829200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:57828200-57829200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:57828200-57829600	Weak transcription	Primary hematopoietic stem cells	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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