Variant report

Variant	rs74067623
Chromosome Location	chr12:21863222-21863223
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21861711..21863736-chr12:21869922..21872687,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs55794995	0.86[AFR][1000 genomes]
rs55812798	1.00[AFR][1000 genomes]
rs55839871	1.00[AFR][1000 genomes]
rs56172202	1.00[AFR][1000 genomes]
rs56224342	1.00[AFR][1000 genomes]
rs57232038	1.00[AFR][1000 genomes]
rs57749821	1.00[AFR][1000 genomes]
rs58679435	1.00[AFR][1000 genomes]
rs59266655	0.86[AFR][1000 genomes]
rs59824507	1.00[AFR][1000 genomes]
rs74066740	1.00[AFR][1000 genomes]
rs74066764	1.00[AFR][1000 genomes]
rs74066768	1.00[AFR][1000 genomes]
rs74066772	1.00[AFR][1000 genomes]
rs74066775	1.00[AFR][1000 genomes]
rs74066794	1.00[AFR][1000 genomes]
rs74066795	1.00[AFR][1000 genomes]
rs74067605	1.00[AFR][1000 genomes]
rs74067613	1.00[AFR][1000 genomes]
rs74067615	1.00[AFR][1000 genomes]
rs74067617	1.00[AFR][1000 genomes]
rs74067618	1.00[AFR][1000 genomes]
rs74067619	1.00[AFR][1000 genomes]
rs74067620	1.00[AFR][1000 genomes]
rs74067622	1.00[AFR][1000 genomes]
rs74067624	1.00[AFR][1000 genomes]
rs74067627	1.00[AFR][1000 genomes]
rs74067629	1.00[AFR][1000 genomes]
rs74067644	1.00[AFR][1000 genomes]
rs74067645	1.00[AFR][1000 genomes]
rs74067646	1.00[AFR][1000 genomes]
rs74067649	1.00[AFR][1000 genomes]
rs74067651	1.00[AFR][1000 genomes]
rs74067652	1.00[AFR][1000 genomes]
rs74067653	1.00[AFR][1000 genomes]
rs74067654	1.00[AFR][1000 genomes]
rs74067657	1.00[AFR][1000 genomes]
rs74067658	1.00[AFR][1000 genomes]
rs74067680	1.00[AFR][1000 genomes]
rs74067810	0.86[AFR][1000 genomes]
rs74067812	0.86[AFR][1000 genomes]
rs74067860	0.86[AFR][1000 genomes]
rs74069162	0.86[AFR][1000 genomes]
rs74069171	0.86[AFR][1000 genomes]
rs74069308	1.00[AFR][1000 genomes]
rs74069309	1.00[AFR][1000 genomes]
rs74069310	1.00[AFR][1000 genomes]
rs74069324	1.00[AFR][1000 genomes]
rs74069330	0.86[AFR][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	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21862000-21864400	Enhancers	Fetal Lung	lung
2	chr12:21862400-21864600	Enhancers	Adipose Nuclei	Adipose
3	chr12:21862600-21863600	Enhancers	Colon Smooth Muscle	Colon
4	chr12:21862600-21863800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:21862800-21864000	Weak transcription	NHDF-Ad	bronchial
6	chr12:21862800-21864800	Enhancers	Rectal Smooth Muscle	rectum
7	chr12:21862800-21871200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:21863000-21864000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:21863200-21863800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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