Variant report

Variant	rs12145451
Chromosome Location	chr1:212425291-212425292
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212420552..212422423-chr1:212423039..212425557,2	K562	blood:
2	chr1:212423429..212425837-chr1:212429181..212431560,2	K562	blood:
3	chr1:212424523..212427087-chr1:212457087..212458716,2	K562	blood:
4	chr1:212404478..212406479-chr1:212423764..212425331,2	K562	blood:
5	chr1:212416179..212418074-chr1:212422362..212425881,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1011232	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10735509	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10779577	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863955	0.87[CHB][hapmap]
rs10863956	0.99[ASN][1000 genomes]
rs10863957	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10863958	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119886	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs11119888	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119890	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11119891	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11119893	0.94[ASN][1000 genomes]
rs12119183	0.89[ASN][1000 genomes]
rs12127954	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12133134	0.86[CHB][hapmap]
rs12145377	0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs12146141	0.96[ASN][1000 genomes]
rs17018777	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs17018847	0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs17018853	0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs57056017	0.88[AFR][1000 genomes]
rs61260530	0.96[ASN][1000 genomes]
rs903119	0.91[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.97[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12145451	PPP2R5A	cis	Whole Blood	GTEx
rs12145451	C1orf75	Cis_1M	lymphoblastoid	RTeQTL
rs12145451	TMEM206	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212416600-212430000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:212418200-212428400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:212421600-212428400	Weak transcription	Right Ventricle	heart
4	chr1:212421800-212427600	Weak transcription	Liver	Liver
5	chr1:212423000-212425800	Weak transcription	HepG2	liver
6	chr1:212423400-212425600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:212423600-212431200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr1:212424000-212427400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:212424200-212428200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:212424200-212428600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:212424200-212429000	Weak transcription	Stomach Mucosa	stomach
12	chr1:212424400-212425800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:212424400-212425800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr1:212424400-212427400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr1:212424400-212430800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:212424400-212431200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:212424600-212431000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:212425000-212427600	Enhancers	Primary T cells from cord blood	blood
19	chr1:212425000-212428200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:212425000-212428200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:212425200-212425400	Enhancers	Primary B cells from cord blood	blood
22	chr1:212425200-212425800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:212425200-212427600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:212425200-212428200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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