Variant report

Variant	rs12297553
Chromosome Location	chr12:123283864-123283865
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	chr12:123281712..123284269-chr12:123287784..123289384,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11059953	0.82[ASN][1000 genomes]
rs11060064	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11060065	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11060208	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11060209	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12298293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12313538	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12313600	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12314544	0.81[EUR][1000 genomes]
rs12315520	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12318871	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12321100	0.82[ASN][1000 genomes]
rs12321131	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1671685	0.81[EUR][1000 genomes]
rs1696326	0.81[EUR][1000 genomes]
rs1696349	0.81[EUR][1000 genomes]
rs1799618	0.81[EUR][1000 genomes]
rs2649908	0.90[EUR][1000 genomes]
rs2649909	0.90[EUR][1000 genomes]
rs4759392	0.84[ASN][1000 genomes]
rs58182048	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59922385	0.81[EUR][1000 genomes]
rs60308342	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7294991	0.84[ASN][1000 genomes]
rs7309225	0.83[ASN][1000 genomes]
rs839360	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs937520	0.90[EUR][1000 genomes]
rs9788290	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 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	chr12:123259400-123310600	Weak transcription	HSMMtube	muscle
2	chr12:123259800-123285800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:123259800-123310600	Weak transcription	Brain Substantia Nigra	brain
4	chr12:123260000-123303600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:123260200-123284000	Weak transcription	Primary B cells from cord blood	blood
6	chr12:123260200-123284000	Weak transcription	Primary T cells from cord blood	blood
7	chr12:123264200-123290800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:123265600-123303600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:123266000-123303800	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:123274600-123288800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:123278600-123284200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:123278600-123305600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:123280800-123284200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr12:123283600-123284800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:123283800-123284000	Enhancers	HepG2	liver
16	chr12:123283800-123284400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:123283800-123284600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:123283800-123284800	Enhancers	Primary hematopoietic stem cells	blood
19	chr12:123283800-123284800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:123283800-123284800	Enhancers	Fetal Thymus	thymus

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