Variant report

Variant	rs55728984
Chromosome Location	chr12:121496072-121496073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121490675..121493658-chr12:121495456..121497011,2	K562	blood:
2	chr12:121495209..121497796-chr12:121499977..121502641,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10492051	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1180008	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17433716	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17434682	0.84[AMR][1000 genomes]
rs17434731	0.84[AMR][1000 genomes]
rs17434809	0.84[AMR][1000 genomes]
rs17512249	0.92[AMR][1000 genomes]
rs17525767	0.84[AMR][1000 genomes]
rs28360439	0.88[AMR][1000 genomes]
rs3850517	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4083358	0.95[EUR][1000 genomes]
rs41416850	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4445718	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55817936	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55846109	0.82[AMR][1000 genomes]
rs55847639	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56017922	0.84[AMR][1000 genomes]
rs560422	0.81[AMR][1000 genomes]
rs56156773	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56159890	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7312738	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73214189	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73214193	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73214200	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73214202	0.94[EUR][1000 genomes]
rs73216105	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73216108	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73216109	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73216110	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73216131	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73218207	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73218210	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7959194	0.84[AMR][1000 genomes]
rs7973360	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv430537	chr12:121487632-121579955	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121486600-121497400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121494800-121497400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:121495600-121497800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:121495600-121498000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:121495600-121498000	Weak transcription	Brain Substantia Nigra	brain
6	chr12:121495800-121497400	Weak transcription	Ovary	ovary
7	chr12:121496000-121496200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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