Variant report

Variant	rs12484185
Chromosome Location	chr22:27769677-27769678
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:27758823..27761385-chr22:27766843..27769713,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11704447	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12483939	0.96[ASN][1000 genomes]
rs12484111	0.98[ASN][1000 genomes]
rs12484219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13055516	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2092078	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092079	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2092080	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2092082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2342929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820754	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4822871	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533794	0.84[ASN][1000 genomes]
rs542954	0.85[ASN][1000 genomes]
rs5997228	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5997238	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005387	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6005404	0.98[ASN][1000 genomes]
rs6005405	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs748884	0.98[ASN][1000 genomes]
rs760592	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv471191	chr22:27730109-27786725	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3517485	chr22:27755447-27778203	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	esv3517486	chr22:27755447-27778203	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	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
9	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
10	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27768400-27769800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:27769000-27769800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr22:27769000-27769800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:27769000-27769800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:27769000-27769800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:27769000-27769800	Enhancers	Pancreas	Pancrea
7	chr22:27769000-27769800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr22:27769200-27769800	Enhancers	Fetal Intestine Small	intestine
9	chr22:27769200-27769800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr22:27769400-27769800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr22:27769400-27769800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:27769400-27769800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr22:27769400-27769800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr22:27769400-27778000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:27769600-27769800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:27769600-27769800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr22:27769600-27769800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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