Variant report

Variant	rs2251270
Chromosome Location	chr4:121777612-121777613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10857073	0.83[AMR][1000 genomes]
rs10857074	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1397767	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1511306	0.93[AFR][1000 genomes]
rs2102551	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2597553	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667170	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2667192	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3114953	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs343173	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs343176	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs343177	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343183	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs343191	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4833673	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6828945	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846000	0.91[AMR][1000 genomes]
rs843557	0.82[AMR][1000 genomes]
rs907295	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9991423	0.83[AMR][1000 genomes];0.81[ASN][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	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2251270	PRDM5	cis	Whole Blood	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121756800-121779800	Weak transcription	Aorta	Aorta
2	chr4:121761200-121778200	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:121761200-121783600	Weak transcription	Pancreas	Pancrea
4	chr4:121763400-121778800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:121765800-121786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:121766000-121786600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:121766200-121790800	Weak transcription	Ovary	ovary
8	chr4:121769000-121779600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:121769200-121779600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:121771400-121781200	Weak transcription	HSMM	muscle
11	chr4:121771600-121783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:121771800-121779600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:121771800-121786800	Weak transcription	Fetal Lung	lung
14	chr4:121774400-121780400	Enhancers	NHDF-Ad	bronchial
15	chr4:121774800-121778600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:121774800-121778600	Weak transcription	NHLF	lung
17	chr4:121775200-121779200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:121775200-121790800	Weak transcription	Fetal Kidney	kidney
19	chr4:121775400-121780000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:121776800-121777800	Enhancers	GM12878-XiMat	blood
21	chr4:121776800-121779400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:121777000-121778600	Weak transcription	Fetal Heart	heart
23	chr4:121777000-121783600	Weak transcription	Fetal Intestine Small	intestine
24	chr4:121777200-121778000	Enhancers	Primary T cells from cord blood	blood
25	chr4:121777600-121777800	Enhancers	Left Ventricle	heart
26	chr4:121777600-121778400	Enhancers	Psoas Muscle	Psoas

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