Variant report

Variant	rs57686151
Chromosome Location	chr12:21955329-21955330
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	chr12:21925815..21927686-chr12:21953359..21956118,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11830174	1.00[AMR][1000 genomes]
rs11835091	1.00[AMR][1000 genomes]
rs16924275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16924290	1.00[AMR][1000 genomes]
rs16924297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16924303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16924306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16924331	1.00[AMR][1000 genomes]
rs2035870	1.00[AMR][1000 genomes]
rs34093632	1.00[AMR][1000 genomes]
rs55797463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56216123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60002697	1.00[AMR][1000 genomes]
rs74069113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069117	1.00[AMR][1000 genomes]
rs74069147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069148	1.00[AMR][1000 genomes]
rs74069149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069165	1.00[AMR][1000 genomes]
rs74069166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069354	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv470275	chr12:21938544-22126314	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21941800-21957400	Weak transcription	Adipose Nuclei	Adipose
2	chr12:21948000-21957800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:21949600-21961400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:21950800-21966200	Weak transcription	Fetal Heart	heart
5	chr12:21952400-21956000	Enhancers	Fetal Intestine Large	intestine
6	chr12:21952600-21955800	Enhancers	Fetal Intestine Small	intestine
7	chr12:21953200-21957600	Weak transcription	Left Ventricle	heart
8	chr12:21953200-21957600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:21953400-21966800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:21953400-21971600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:21953800-21981000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:21954000-21955800	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:21954200-21972200	Weak transcription	Fetal Kidney	kidney
14	chr12:21954400-21980600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:21954600-21960800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:21955200-21955600	Weak transcription	Liver	Liver

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