Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:212343138..212345590-chr1:212356059..212357809,2	K562	blood:
2	chr1:212350500..212353669-chr1:212356287..212359186,4	K562	blood:
3	chr1:212355708..212357502-chr1:212455747..212457374,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10779573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119873	1.00[ASN][1000 genomes]
rs11119886	1.00[MKK][hapmap]
rs12132912	0.92[ASN][1000 genomes]
rs12134060	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12135257	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[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];0.93[ASN][1000 genomes]
rs12142929	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12143853	0.82[CEU][hapmap]
rs12145030	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12407827	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[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];0.96[ASN][1000 genomes]
rs17018777	0.80[AMR][1000 genomes]
rs399429	0.84[AMR][1000 genomes]
rs4418675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4951575	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[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
rs11119874	PPP2R5A	cis	Thyroid	GTEx

Chromatin state (count:19 , 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	chr1:212352600-212357200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:212352600-212357200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:212353000-212357400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:212353000-212357400	Weak transcription	Spleen	Spleen
7	chr1:212353000-212361200	Weak transcription	Right Atrium	heart
8	chr1:212353200-212357400	Weak transcription	Placenta	Placenta
9	chr1:212353200-212361200	Weak transcription	Lung	lung
10	chr1:212354000-212360400	Weak transcription	Esophagus	oesophagus
11	chr1:212354200-212359800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:212354200-212360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:212354200-212361200	Weak transcription	HMEC	breast
14	chr1:212355200-212361200	Weak transcription	Left Ventricle	heart
15	chr1:212355600-212357800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr1:212356000-212357800	Enhancers	Adipose Nuclei	Adipose
17	chr1:212356000-212359800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:212356000-212360600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:212356200-212361000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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