Variant report

Variant	rs73268209
Chromosome Location	chr12:10708172-10708173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr12:10706530-10708273	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:10706642-10708188	GM12878	blood:	n/a	n/a
3	MTA3	chr12:10706553-10708185	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:10706703-10708188	GM12878	blood:	n/a	n/a
5	CEBPB	chr12:10706586-10708245	GM12878	blood:	n/a	n/a
6	NFIC	chr12:10706546-10708335	GM12878	blood:	n/a	n/a
7	STAT5A	chr12:10706831-10708274	GM12878	blood:	n/a	n/a
8	MTA3	chr12:10706624-10708177	GM12878	blood:	n/a	n/a
9	FOXM1	chr12:10706671-10708228	GM12878	blood:	n/a	n/a
10	NFATC1	chr12:10706609-10708281	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SLC25A39P2	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59582425	0.86[AMR][1000 genomes]
rs7309605	0.86[AMR][1000 genomes]
rs73252010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252012	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252057	0.86[AMR][1000 genomes]
rs73266202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73268205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73268207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73268211	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73268213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73268214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73268219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73268220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7957198	0.86[AMR][1000 genomes]
rs7959470	0.93[AMR][1000 genomes]
rs7959753	0.93[AMR][1000 genomes]
rs7961522	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7974801	0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898766	chr12:10537269-10722585	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv557459	chr12:10560591-10729821	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv898772	chr12:10622047-10722585	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv557479	chr12:10644663-10729821	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv898773	chr12:10660850-10722585	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv898774	chr12:10666025-10722585	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv898775	chr12:10668694-10735786	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1039120	chr12:10675930-10755446	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10706800-10708200	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr12:10706800-10708200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:10706800-10708200	Flanking Active TSS	Fetal Thymus	thymus
4	chr12:10706800-10708200	ZNF genes & repeats	GM12878-XiMat	blood
5	chr12:10707000-10708200	Active TSS	Thymus	Thymus
6	chr12:10707400-10709800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr12:10707600-10708200	Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr12:10707800-10708400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:10707800-10710000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:10707800-10710200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:10707800-10711200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:10707800-10713200	Enhancers	Dnd41	blood
13	chr12:10708000-10708200	Active TSS	Primary T cells fromperipheralblood	blood
14	chr12:10708000-10708200	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr12:10708000-10708200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr12:10708000-10708200	Active TSS	Primary T killer memory cells from peripheral blood	blood

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