Variant report

Variant	rs1457925
Chromosome Location	chr21:28942922-28942923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28935406..28937759-chr21:28942464..28945414,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13049964	0.86[ASN][1000 genomes]
rs1379664	0.84[EUR][1000 genomes]
rs1457923	0.81[EUR][1000 genomes]
rs1457924	0.83[EUR][1000 genomes]
rs2219408	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2831004	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2831019	0.80[EUR][1000 genomes]
rs2898112	0.80[EUR][1000 genomes]
rs9305318	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv834071	chr21:28806911-28988880	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv587346	chr21:28921690-28942922	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv587347	chr21:28930833-28951567	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv913669	chr21:28932087-28981553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1457925	GRIK1	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28940800-28945000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:28941200-28944400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr21:28941200-28945000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:28941600-28943200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:28941800-28943000	Flanking Active TSS	HMEC	breast
6	chr21:28941800-28943000	Flanking Active TSS	NHDF-Ad	bronchial
7	chr21:28941800-28943000	Flanking Active TSS	Osteobl	bone
8	chr21:28941800-28943200	Enhancers	Aorta	Aorta
9	chr21:28941800-28944000	Enhancers	Fetal Muscle Leg	muscle
10	chr21:28941800-28946200	Enhancers	NH-A	brain
11	chr21:28942000-28943000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:28942000-28943200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:28942000-28943200	Flanking Active TSS	NHEK	skin
14	chr21:28942000-28944000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr21:28942200-28943000	Enhancers	Right Atrium	heart
16	chr21:28942200-28943200	Enhancers	Adipose Nuclei	Adipose
17	chr21:28942200-28943200	Enhancers	Fetal Stomach	stomach
18	chr21:28942200-28943600	Enhancers	Colon Smooth Muscle	Colon
19	chr21:28942200-28943600	Enhancers	Fetal Lung	lung
20	chr21:28942200-28943800	Enhancers	Placenta	Placenta
21	chr21:28942400-28943000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:28942400-28943000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr21:28942400-28943000	Enhancers	Fetal Kidney	kidney
24	chr21:28942400-28943000	Enhancers	Gastric	stomach
25	chr21:28942400-28943000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr21:28942400-28943000	Enhancers	Stomach Smooth Muscle	stomach
27	chr21:28942400-28944400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr21:28942600-28943000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr21:28942600-28943800	Enhancers	Fetal Heart	heart
30	chr21:28942600-28945000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr21:28942600-28945000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr21:28942600-28945200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr21:28942600-28945200	Enhancers	HSMM	muscle
34	chr21:28942800-28943000	Flanking Active TSS	NHLF	lung
35	chr21:28942800-28943200	Enhancers	Rectal Smooth Muscle	rectum
36	chr21:28942800-28943200	Enhancers	HSMMtube	muscle
37	chr21:28942800-28944000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr21:28942800-28946400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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