Variant report

Variant	rs4426165
Chromosome Location	chr12:123293807-123293808
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	chr12:123293432..123295111-chr12:123296025..123298084,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10744394	0.93[AFR][1000 genomes]
rs10744401	0.89[AFR][1000 genomes]
rs10773599	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10847742	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10847749	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10847751	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10847775	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11060152	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369710	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12811036	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1696355	0.80[EUR][1000 genomes]
rs1798563	0.80[EUR][1000 genomes]
rs2649895	0.80[EUR][1000 genomes]
rs2649900	0.80[EUR][1000 genomes]
rs3844369	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3852535	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4038070	0.90[EUR][1000 genomes]
rs4038080	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4038081	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4307760	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4424710	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759354	1.00[ASN][1000 genomes]
rs4759391	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489241	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305256	0.82[AFR][1000 genomes]
rs7487095	0.83[EUR][1000 genomes]
rs7957643	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839354	0.80[EUR][1000 genomes]
rs967281	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123259400-123310600	Weak transcription	HSMMtube	muscle
2	chr12:123259800-123310600	Weak transcription	Brain Substantia Nigra	brain
3	chr12:123260000-123303600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:123265600-123303600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:123266000-123303800	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:123278600-123305600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:123284400-123297400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:123284800-123297600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:123284800-123297600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:123286600-123303600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:123289200-123303800	Weak transcription	Brain Anterior Caudate	brain
12	chr12:123290600-123310400	Weak transcription	Aorta	Aorta
13	chr12:123291800-123304800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:123292800-123294200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:123293000-123294000	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:123293000-123294200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:123293000-123294200	Enhancers	Placenta	Placenta
18	chr12:123293600-123294200	Enhancers	HMEC	breast
19	chr12:123293600-123296200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:123293800-123294000	Enhancers	NHEK	skin
21	chr12:123293800-123294200	Enhancers	GM12878-XiMat	blood
22	chr12:123293800-123296600	Weak transcription	Primary B cells from cord blood	blood

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