Variant report

Variant	rs4239927
Chromosome Location	chr22:27835904-27835905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12168428	1.00[AMR][1000 genomes]
rs73880587	1.00[AMR][1000 genomes]
rs73880588	1.00[AMR][1000 genomes]
rs9620704	1.00[AMR][1000 genomes]
rs9625259	1.00[AMR][1000 genomes]
rs9625261	1.00[AMR][1000 genomes]
rs9625263	1.00[AMR][1000 genomes]
rs9625271	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27829600-27844000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:27832400-27838800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:27832600-27837400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr22:27832800-27836800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:27832800-27843400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:27832800-27844000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:27833000-27836000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr22:27833000-27838600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr22:27833800-27840200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:27834000-27836200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:27834000-27837400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:27834800-27839600	Weak transcription	Right Atrium	heart
13	chr22:27835000-27836000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr22:27835000-27836400	Weak transcription	Fetal Brain Male	brain
15	chr22:27835000-27837000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr22:27835000-27837200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr22:27835000-27838200	Enhancers	Brain Germinal Matrix	brain
18	chr22:27835000-27838400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr22:27835000-27841800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr22:27835200-27836200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr22:27835200-27836400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:27835200-27836400	Weak transcription	Fetal Lung	lung
23	chr22:27835200-27837200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:27835200-27837400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:27835200-27837400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:27835400-27836200	Weak transcription	Fetal Brain Female	brain
27	chr22:27835600-27838600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr22:27835800-27840200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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