Variant report

Variant	rs9625261
Chromosome Location	chr22:27956405-27956406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12168428	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2065061	1.00[MEX][hapmap]
rs4239927	1.00[AMR][1000 genomes]
rs73880587	1.00[AMR][1000 genomes]
rs73880588	1.00[AMR][1000 genomes]
rs9620704	0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9625259	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9625263	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9625271	0.88[AFR][1000 genomes];1.00[AMR][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27952800-27957200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr22:27953000-27957200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:27953400-27957200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:27954200-27957200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:27954400-27957600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:27954600-27957200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr22:27954600-27958000	Weak transcription	Fetal Brain Female	brain
8	chr22:27954600-27958200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:27954800-27957400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:27955000-27957200	Weak transcription	Fetal Stomach	stomach
11	chr22:27955600-27957800	Enhancers	Brain Germinal Matrix	brain
12	chr22:27955800-27958200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:27955800-27958400	Enhancers	Fetal Muscle Trunk	muscle
14	chr22:27956000-27957400	Weak transcription	Fetal Brain Male	brain
15	chr22:27956400-27956600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr22:27956400-27957400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:27956400-27959600	Enhancers	Fetal Muscle Leg	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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