Variant report

Variant	rs12127199
Chromosome Location	chr1:67103742-67103743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11208920	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11208938	0.98[ASN][1000 genomes]
rs12032485	0.99[ASN][1000 genomes]
rs12138066	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12726588	0.99[ASN][1000 genomes]
rs1325261	0.82[AFR][1000 genomes]
rs1536114	1.00[ASN][1000 genomes]
rs1570814	0.95[ASN][1000 genomes]
rs17129280	0.95[ASN][1000 genomes]
rs1998717	0.99[ASN][1000 genomes]
rs1998718	0.97[ASN][1000 genomes]
rs2312154	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2872079	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4488004	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4655649	0.99[ASN][1000 genomes]
rs6679568	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6680364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6696812	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7528182	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7546825	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67088400-67114200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:67090400-67155000	Weak transcription	Fetal Heart	heart
3	chr1:67090800-67108400	Weak transcription	Brain Anterior Caudate	brain
4	chr1:67091200-67107400	Weak transcription	NHDF-Ad	bronchial
5	chr1:67091200-67108600	Weak transcription	Osteobl	bone
6	chr1:67091200-67108800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:67091200-67128000	Weak transcription	NH-A	brain
8	chr1:67091400-67105200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:67091400-67107400	Weak transcription	Fetal Brain Female	brain
10	chr1:67092000-67117200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:67092200-67114200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:67093200-67107800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:67096200-67108200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:67098800-67108800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:67099400-67115600	Weak transcription	Fetal Lung	lung
16	chr1:67100000-67144400	Weak transcription	Left Ventricle	heart
17	chr1:67100200-67106200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:67100400-67108600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:67101000-67108800	Weak transcription	Brain Angular Gyrus	brain
20	chr1:67101200-67113600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:67101400-67110200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:67101600-67107400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:67101600-67110800	Weak transcription	Aorta	Aorta
24	chr1:67102200-67106200	Weak transcription	NHLF	lung
25	chr1:67102600-67108800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:67102800-67120200	Weak transcription	Brain Germinal Matrix	brain
27	chr1:67103200-67107800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:67103200-67112200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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