Variant report

Variant	rs11119893
Chromosome Location	chr1:212440206-212440207
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212439869..212442717-chr1:212444447..212446810,3	K562	blood:
2	chr1:212434393..212437066-chr1:212439092..212441986,2	K562	blood:
3	chr1:212433580..212437066-chr1:212438671..212444004,6	K562	blood:
4	chr1:212439329..212443402-chr1:212456167..212459238,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1011232	0.94[ASN][1000 genomes]
rs10735509	0.93[ASN][1000 genomes]
rs10779577	0.94[ASN][1000 genomes]
rs10863956	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10863957	0.90[ASN][1000 genomes]
rs10863958	0.93[ASN][1000 genomes]
rs11119886	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11119888	0.93[ASN][1000 genomes]
rs11119890	0.94[ASN][1000 genomes]
rs11119891	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11119903	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11119907	1.00[AFR][1000 genomes]
rs11119908	1.00[AFR][1000 genomes]
rs11119910	1.00[AFR][1000 genomes]
rs12118709	1.00[AFR][1000 genomes]
rs12118732	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12119183	0.90[ASN][1000 genomes]
rs12124582	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12127954	0.84[ASN][1000 genomes]
rs12128965	1.00[AFR][1000 genomes]
rs12129267	1.00[AFR][1000 genomes]
rs12134074	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12137798	1.00[AFR][1000 genomes]
rs12143853	1.00[AFR][1000 genomes]
rs12145377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12145451	0.94[ASN][1000 genomes]
rs12146141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12561785	1.00[AFR][1000 genomes]
rs12562618	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1342152	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1493601	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17018847	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17018853	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2298115	1.00[AFR][1000 genomes]
rs61260530	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs884923	0.82[EUR][1000 genomes]
rs903119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	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
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11119893	PPP2R5A	cis	Whole Blood	GTEx
rs11119893	PPP2R5A	cis	Thyroid	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212435200-212445600	Weak transcription	Right Atrium	heart
2	chr1:212435400-212444600	Weak transcription	Stomach Mucosa	stomach
3	chr1:212435600-212444400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:212435800-212444800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:212436000-212442600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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