Variant report

Variant	rs12819930
Chromosome Location	chr12:121525591-121525592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121473524..121476101-chr12:121524769..121527497,2	K562	blood:
2	chr12:121525545..121528351-chr12:121648009..121649745,2	MCF-7	breast:
3	chr12:121525079..121528154-chr12:121532572..121535295,3	MCF-7	breast:
4	chr12:121517471..121520045-chr12:121524005..121526918,3	K562	blood:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction
ENSG00000256963	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs12312695	1.00[MEX][hapmap]
rs12314721	1.00[MEX][hapmap]
rs12810503	0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12813980	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12814235	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs12816966	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12817169	1.00[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12819523	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12820593	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12824585	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs12830584	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12832396	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1718153	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17432871	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17434640	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17525809	1.00[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1800574	1.00[ASW][hapmap]
rs208302	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2260138	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2393752	0.97[ASN][1000 genomes]
rs2393753	0.85[ASN][1000 genomes]
rs2393754	0.88[ASN][1000 genomes]
rs2464844	0.82[ASN][1000 genomes]
rs2686372	1.00[CHB][hapmap]
rs28360446	1.00[AFR][1000 genomes]
rs28969465	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28969469	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34185850	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34325588	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs34449339	0.97[ASN][1000 genomes]
rs34480856	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34572498	0.91[ASN][1000 genomes]
rs34805626	0.97[ASN][1000 genomes]
rs34811727	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs34934130	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs35018823	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35076950	0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35158421	0.97[ASN][1000 genomes]
rs35237790	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs35362296	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs35455367	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35579189	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35605477	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35607692	0.84[AMR][1000 genomes]
rs35760636	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35869834	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35940217	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs36133237	0.97[ASN][1000 genomes]
rs494986	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs513113	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs514109	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56098349	0.97[ASN][1000 genomes]
rs583187	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs585847	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs588130	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs588510	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs588573	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs599785	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs601636	0.91[ASN][1000 genomes]
rs603505	0.88[ASN][1000 genomes]
rs603891	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs618201	1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs657172	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs66570654	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs66811517	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs670541	1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs675718	0.97[ASN][1000 genomes]
rs676632	0.97[ASN][1000 genomes]
rs67691679	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs67739439	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67881993	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs67898046	0.96[AMR][1000 genomes]
rs71454676	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71454679	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs71454680	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73214191	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs73214199	0.96[AMR][1000 genomes]
rs73216114	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73218241	0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs934353	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs934354	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs934355	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9805004	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv430537	chr12:121487632-121579955	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12819930	P2RX4	cis	multi-tissue	Pritchard

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121522800-121527000	Weak transcription	K562	blood
2	chr12:121524800-121526400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr12:121524800-121527600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:121524800-121529200	Enhancers	Fetal Muscle Leg	muscle
5	chr12:121525000-121525800	Enhancers	HSMMtube	muscle
6	chr12:121525000-121526400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:121525000-121526600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:121525200-121525600	Enhancers	Primary hematopoietic stem cells	blood
9	chr12:121525200-121525600	Enhancers	Fetal Muscle Trunk	muscle
10	chr12:121525200-121526000	Enhancers	Dnd41	blood
11	chr12:121525200-121526200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:121525200-121526200	Enhancers	Spleen	Spleen
13	chr12:121525200-121527400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:121525400-121525600	Enhancers	Adipose Nuclei	Adipose
15	chr12:121525400-121525600	Enhancers	Right Atrium	heart
16	chr12:121525400-121525800	Weak transcription	Right Ventricle	heart
17	chr12:121525400-121526000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr12:121525400-121526000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:121525400-121526000	Enhancers	Fetal Thymus	thymus
20	chr12:121525400-121526000	Enhancers	Lung	lung
21	chr12:121525400-121526200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr12:121525400-121526200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:121525400-121526200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr12:121525400-121526200	Enhancers	GM12878-XiMat	blood
25	chr12:121525400-121529200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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