Variant report

Variant	rs74144267
Chromosome Location	chr1:221615271-221615272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12060136	0.82[EUR][1000 genomes]
rs12064492	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084674	1.00[EUR][1000 genomes]
rs12086056	1.00[EUR][1000 genomes]
rs12093693	1.00[EUR][1000 genomes]
rs74144273	1.00[EUR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221611400-221615800	Enhancers	HMEC	breast
2	chr1:221612600-221615800	Enhancers	HSMMtube	muscle
3	chr1:221613400-221615600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:221613600-221615600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:221613600-221616000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr1:221613800-221615600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:221614000-221616200	Enhancers	Brain Substantia Nigra	brain
8	chr1:221614000-221616200	Enhancers	Fetal Lung	lung
9	chr1:221614200-221615400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:221614200-221615600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:221614400-221615800	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr1:221614800-221615600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:221614800-221615600	Enhancers	Colon Smooth Muscle	Colon
14	chr1:221614800-221615800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:221614800-221615800	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:221614800-221617800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:221614800-221621200	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:221615000-221615400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:221615000-221617600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:221615200-221617400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:221615200-221617600	Weak transcription	Muscle Satellite Cultured Cells	--

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