Variant report

Variant	rs2457222
Chromosome Location	chr5:118763319-118763320
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118760077..118762768-chr5:118762980..118764985,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10077888	0.84[EUR][1000 genomes]
rs1047322	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10478421	0.85[ASN][1000 genomes]
rs10478422	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1105769	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1105770	0.82[EUR][1000 genomes]
rs1509144	0.84[EUR][1000 genomes]
rs154632	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1848554	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs193346	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1995794	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2455466	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2455467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs258047	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs258050	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs258051	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs32643	0.85[ASN][1000 genomes]
rs32644	0.84[ASN][1000 genomes]
rs32645	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs32646	0.84[ASN][1000 genomes]
rs32649	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3733855	0.81[AMR][1000 genomes]
rs39969	0.80[ASN][1000 genomes]
rs455991	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6888436	0.84[AMR][1000 genomes]
rs6888463	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6893184	0.83[EUR][1000 genomes]
rs7721752	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][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	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118761400-118765000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:118761600-118764000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr5:118761800-118763400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:118761800-118764400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:118761800-118764600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:118761800-118764800	Enhancers	Primary B cells from peripheral blood	blood
7	chr5:118762000-118763800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:118762000-118764200	Enhancers	Primary B cells from cord blood	blood
9	chr5:118762200-118764600	Enhancers	K562	blood
10	chr5:118762400-118763800	Enhancers	Primary hematopoietic stem cells	blood
11	chr5:118762600-118764800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:118762800-118763800	Enhancers	Fetal Lung	lung
13	chr5:118762800-118764600	Enhancers	Stomach Mucosa	stomach
14	chr5:118763000-118763400	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:118763000-118763400	Weak transcription	Placenta	Placenta
16	chr5:118763200-118764000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:118763200-118764600	Enhancers	Monocytes-CD14+_RO01746	blood

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