Variant report

Variant	rs12691704
Chromosome Location	chr2:145822778-145822779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1006923	0.90[ASN][1000 genomes]
rs10206585	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10928240	0.90[AFR][1000 genomes]
rs10928241	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125128	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12474485	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12476923	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477111	0.90[ASN][1000 genomes]
rs12992411	0.90[ASN][1000 genomes]
rs12995180	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13015800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384504	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13389190	0.90[ASN][1000 genomes]
rs13428423	0.90[ASN][1000 genomes]
rs1830318	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830320	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881409	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881410	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252383	0.88[EUR][1000 genomes]
rs2663966	0.95[ASN][1000 genomes]
rs34029033	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34372836	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35462154	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35805189	0.95[ASN][1000 genomes]
rs6430076	0.90[ASN][1000 genomes]
rs6430078	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6721988	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747171	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747275	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749506	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7423637	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562803	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604735	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7607110	0.80[EUR][1000 genomes]
rs787427	0.90[ASN][1000 genomes]
rs957292	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957293	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:145819200-145826600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145821400-145823400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:145821400-145825400	Enhancers	Fetal Lung	lung
4	chr2:145821400-145827000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:145821600-145823400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:145821800-145823400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:145821800-145823400	Weak transcription	Brain Anterior Caudate	brain
8	chr2:145821800-145823600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:145821800-145823600	Enhancers	Osteobl	bone
10	chr2:145822000-145823200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:145822000-145823200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:145822000-145825800	Enhancers	NHDF-Ad	bronchial
13	chr2:145822200-145823800	Enhancers	Brain Angular Gyrus	brain
14	chr2:145822200-145823800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:145822200-145824000	Enhancers	Brain Hippocampus Middle	brain
16	chr2:145822200-145824200	Enhancers	Adipose Nuclei	Adipose
17	chr2:145822200-145825000	Enhancers	Brain Substantia Nigra	brain
18	chr2:145822400-145823600	Weak transcription	Ovary	ovary
19	chr2:145822400-145824000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:145822600-145823600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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