Variant report

Variant	rs4820758
Chromosome Location	chr22:27859139-27859140
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	chr22:27857934..27860311-chr22:27860712..27862590,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12157480	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4822881	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4822883	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4822884	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762176	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005451	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61402459	0.88[ASN][1000 genomes]
rs8136063	0.86[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	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	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv459864	chr22:27760086-27865344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv588875	chr22:27760086-27865344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv471192	chr22:27821656-27865344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv459865	chr22:27852183-27867567	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv588876	chr22:27852183-27867567	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27854800-27860200	Enhancers	Fetal Brain Male	brain
2	chr22:27855200-27859200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr22:27855400-27859400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:27855800-27859600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:27856000-27859200	Enhancers	Brain Anterior Caudate	brain
6	chr22:27856000-27859400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr22:27856000-27859400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:27856000-27859400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr22:27856000-27859800	Enhancers	Adipose Nuclei	Adipose
10	chr22:27856200-27859400	Enhancers	NH-A	brain
11	chr22:27856200-27859600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:27856400-27859200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr22:27856400-27859400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr22:27856400-27859400	Enhancers	Brain Cingulate Gyrus	brain
15	chr22:27856600-27859200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:27856600-27860000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr22:27856800-27860200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:27857400-27859200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr22:27857400-27859400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr22:27857400-27859400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:27857400-27859600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:27857600-27859400	Enhancers	Brain Angular Gyrus	brain
23	chr22:27858000-27859200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr22:27858000-27859200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr22:27858000-27859200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:27858000-27859400	Enhancers	Fetal Brain Female	brain
27	chr22:27858000-27859600	Enhancers	Brain Germinal Matrix	brain
28	chr22:27858000-27859800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:27858000-27859800	Enhancers	Liver	Liver
30	chr22:27858200-27859200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr22:27858400-27867800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:27858400-27869600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr22:27858600-27859600	Enhancers	Brain Hippocampus Middle	brain
34	chr22:27859000-27859200	Bivalent Enhancer	Fetal Stomach	stomach
35	chr22:27859000-27859800	Enhancers	Brain Substantia Nigra	brain
36	chr22:27859000-27862000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr22:27859000-27862600	Weak transcription	NHDF-Ad	bronchial
38	chr22:27859000-27869000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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