Variant report

Variant	rs4418675
Chromosome Location	chr1:212352727-212352728
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212351236..212353936-chr1:212380714..212382425,3	K562	blood:
2	chr1:212347420..212350421-chr1:212350572..212353527,5	K562	blood:
3	chr1:212350500..212353669-chr1:212356287..212359186,4	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10779573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119873	0.99[ASN][1000 genomes]
rs11119874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12132912	0.94[ASN][1000 genomes]
rs12134060	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12135257	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12136808	0.90[AMR][1000 genomes]
rs12137322	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12142929	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12143853	0.82[CEU][hapmap]
rs12145030	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12407827	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1493602	0.87[AMR][1000 genomes]
rs17018685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17018777	0.80[AMR][1000 genomes]
rs399429	0.84[AMR][1000 genomes]
rs4951575	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4951580	0.82[AMR][1000 genomes]
rs9793334	0.85[AMR][1000 genomes]
rs9793974	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4418675	PPP2R5A	cis	Thyroid	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212336800-212359600	Weak transcription	Dnd41	blood
2	chr1:212350600-212359600	Weak transcription	K562	blood
3	chr1:212351600-212352800	Enhancers	Adipose Nuclei	Adipose
4	chr1:212351600-212353000	Enhancers	Psoas Muscle	Psoas
5	chr1:212351600-212353200	Enhancers	Placenta	Placenta
6	chr1:212351600-212353200	Enhancers	Left Ventricle	heart
7	chr1:212351600-212354200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:212352000-212353000	Enhancers	Fetal Thymus	thymus
9	chr1:212352000-212353000	Enhancers	Right Atrium	heart
10	chr1:212352000-212353600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:212352000-212354200	Enhancers	HMEC	breast
12	chr1:212352000-212354400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:212352200-212353000	Enhancers	Right Ventricle	heart
14	chr1:212352200-212353800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:212352200-212353800	Enhancers	NHLF	lung
16	chr1:212352200-212354000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:212352400-212353000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:212352400-212353200	Enhancers	Lung	lung
19	chr1:212352400-212353200	Enhancers	HSMMtube	muscle
20	chr1:212352400-212353800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:212352400-212354200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:212352400-212354200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:212352600-212352800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:212352600-212353000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:212352600-212353000	Flanking Active TSS	NHDF-Ad	bronchial
26	chr1:212352600-212353000	Flanking Active TSS	NHEK	skin
27	chr1:212352600-212353200	Enhancers	NH-A	brain
28	chr1:212352600-212353600	Enhancers	HSMM	muscle
29	chr1:212352600-212353800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:212352600-212353800	Enhancers	Osteobl	bone
31	chr1:212352600-212354000	Enhancers	Esophagus	oesophagus
32	chr1:212352600-212355800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:212352600-212357200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr1:212352600-212357200	Weak transcription	Monocytes-CD14+_RO01746	blood

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