Variant report

Variant	rs5762258
Chromosome Location	chr22:27970444-27970445
allele	G/T
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:17)

rs_ID	r²[population]
rs1547072	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985031	1.00[AFR][1000 genomes]
rs2273202	1.00[AFR][1000 genomes]
rs45475195	1.00[AFR][1000 genomes]
rs4820767	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4822905	1.00[AFR][1000 genomes]
rs4822910	1.00[AFR][1000 genomes]
rs4822911	1.00[AFR][1000 genomes]
rs4822913	1.00[AFR][1000 genomes]
rs4822915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4822916	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4822920	1.00[AFR][1000 genomes]
rs55924866	1.00[AFR][1000 genomes]
rs5762260	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723183	1.00[AFR][1000 genomes]
rs73160595	1.00[AFR][1000 genomes]
rs73162308	1.00[AFR][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	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv588877	chr22:27930080-28094845	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27967200-27971200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:27967200-27973800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:27967800-27972600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:27968600-27970600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:27969000-27970600	Enhancers	Fetal Brain Male	brain
6	chr22:27969200-27971000	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr22:27969400-27971000	Enhancers	Primary hematopoietic stem cells	blood
8	chr22:27969600-27972200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:27969800-27980800	Enhancers	Fetal Stomach	stomach
10	chr22:27970000-27972200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr22:27970000-27972400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:27970000-27973600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:27970000-27975800	Enhancers	Fetal Muscle Trunk	muscle
14	chr22:27970200-27970600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:27970200-27971600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:27970200-27972600	Weak transcription	Fetal Brain Female	brain
17	chr22:27970200-27979600	Weak transcription	Fetal Intestine Small	intestine
18	chr22:27970400-27971800	Weak transcription	Fetal Lung	lung
19	chr22:27970400-27972000	Weak transcription	Fetal Kidney	kidney
20	chr22:27970400-27973400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:27970400-27973400	Weak transcription	Fetal Thymus	thymus

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