Variant report

Variant	rs73054471
Chromosome Location	chr12:10707095-10707096
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	RUNX3	chr12:10706685-10707815	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:10707072-10707214	GM12878	blood:	n/a	n/a
5	MTA3	chr12:10706553-10708185	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:10706703-10708188	GM12878	blood:	n/a	n/a
7	CEBPB	chr12:10706586-10708245	GM12878	blood:	n/a	n/a
8	NFIC	chr12:10706546-10708335	GM12878	blood:	n/a	n/a
9	STAT5A	chr12:10706831-10708274	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:10707068-10707425	GM12891	blood:	n/a	n/a
11	POLR2A	chr12:10706657-10708164	GM12891	blood:	n/a	n/a
12	POLR2A	chr12:10706610-10708169	GM12891	blood:	n/a	n/a
13	BCLAF1	chr12:10706665-10707710	GM12878	blood:	n/a	n/a
14	MTA3	chr12:10706624-10708177	GM12878	blood:	n/a	n/a
15	STAT5A	chr12:10706704-10707902	GM12878	blood:	n/a	n/a
16	FOXM1	chr12:10706671-10708228	GM12878	blood:	n/a	n/a
17	NFATC1	chr12:10706609-10708281	GM12878	blood:	n/a	n/a
18	PML	chr12:10706604-10708141	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SLC25A39P2	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10743908	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10772313	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10845150	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11836564	0.95[EUR][1000 genomes]
rs16915265	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16915318	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17206822	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17206857	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17741632	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17741638	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17809278	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2417907	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34783083	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4620802	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4763544	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55658101	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55693758	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55776135	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55777152	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55818475	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55922148	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55924876	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55936935	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55962548	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56099735	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56259905	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56321981	0.80[ASN][1000 genomes]
rs56377422	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56386466	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59007580	0.96[EUR][1000 genomes]
rs59466049	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6488297	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6488298	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6488299	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6488300	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6488301	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67059753	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67181611	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67755400	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67968014	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7134067	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7135046	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73054404	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73054406	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73054408	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73054412	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73054415	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73054418	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73054421	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73054423	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73054440	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73054441	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73054443	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73054450	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73054466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73054470	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73060470	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73060473	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73060478	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73060482	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73062509	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73062510	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73062511	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73062514	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73070518	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73070521	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73070549	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73070550	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73070554	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73070573	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73070576	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73070578	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73070593	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73070596	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73070602	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73072005	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73072007	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73072076	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73072078	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7486108	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7954153	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7955992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956981	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966231	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7972425	0.98[EUR][1000 genomes]
rs7977513	0.95[EUR][1000 genomes];0.93[ASN][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	chr12:10706200-10707200	Active TSS	Primary T helper naive cells from peripheral blood	blood
2	chr12:10706600-10707400	Enhancers	Dnd41	blood
3	chr12:10706800-10708000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr12:10706800-10708200	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr12:10706800-10708200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:10706800-10708200	Flanking Active TSS	Fetal Thymus	thymus
7	chr12:10706800-10708200	ZNF genes & repeats	GM12878-XiMat	blood
8	chr12:10707000-10707200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:10707000-10707400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr12:10707000-10707600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:10707000-10707800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:10707000-10707800	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:10707000-10707800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:10707000-10708000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:10707000-10708000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr12:10707000-10708200	Active TSS	Thymus	Thymus

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