Variant report

Variant	rs56354789
Chromosome Location	chr12:48803943-48803944
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11168561	0.81[ASN][1000 genomes]
rs11168562	0.81[ASN][1000 genomes]
rs11168577	0.81[AMR][1000 genomes]
rs11168586	0.83[AMR][1000 genomes]
rs12372687	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35338015	0.81[AMR][1000 genomes]
rs4760706	0.83[ASN][1000 genomes]
rs6580671	0.81[AMR][1000 genomes]
rs7133497	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7134019	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7301176	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7314569	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7955785	0.84[AMR][1000 genomes]
rs7964743	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48802600-48804400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr12:48803000-48805400	Enhancers	Hela-S3	cervix
3	chr12:48803200-48804000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr12:48803200-48804200	Enhancers	Primary T cells from cord blood	blood
5	chr12:48803200-48804200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr12:48803200-48804400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:48803200-48804400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:48803200-48804600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:48803400-48804000	Enhancers	Lung	lung
10	chr12:48803400-48804200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:48803400-48804200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:48803400-48804200	Enhancers	Left Ventricle	heart
13	chr12:48803400-48804200	Flanking Active TSS	K562	blood
14	chr12:48803600-48804000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr12:48803600-48804200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:48803600-48804200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:48803800-48804000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:48803800-48804000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr12:48803800-48804400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr12:48803800-48804800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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