Variant report

Variant	rs74018285
Chromosome Location	chr16:48180853-48180854
allele	C/G
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	chr16:48180461-48180873	GM12878	blood:	n/a	n/a
2	RUNX3	chr16:48180469-48180921	GM12878	blood:	n/a	n/a
3	CTCF	chr16:48180767-48180897	GM19239	blood:	n/a	n/a
4	EGR1	chr16:48180664-48180967	K562	blood:	n/a	n/a
5	POLR2A	chr16:48180773-48180871	MCF-7	breast:	n/a	n/a
6	BCL3	chr16:48180554-48181022	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:48180795-48180858	Gliobla	brain:	n/a	n/a
8	BATF	chr16:48180584-48180910	GM12878	blood:	n/a	n/a
9	PBX3	chr16:48180678-48180903	GM12878	blood:	n/a	n/a
10	CTCF	chr16:48180802-48180879	Fibrobl	skin:	n/a	n/a
11	BCL3	chr16:48180674-48180940	GM12878	blood:	n/a	n/a
12	EGR1	chr16:48180764-48180879	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:48180637-48181046	GM12892	blood:	n/a	n/a
14	NFATC1	chr16:48180576-48180957	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:48180753-48180904	A549	lung:	n/a	n/a

Variant related genes	Relation type
ABCC12	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs16945857	1.00[AMR][1000 genomes]
rs16945864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945880	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945904	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945922	1.00[AMR][1000 genomes]
rs16945926	1.00[AMR][1000 genomes]
rs16945943	1.00[AMR][1000 genomes]
rs16945946	1.00[AMR][1000 genomes]
rs17815694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55913020	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58041814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59000493	1.00[AMR][1000 genomes]
rs59404336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59546442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59815620	1.00[AMR][1000 genomes]
rs60438421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60752576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61695297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7184973	1.00[AMR][1000 genomes]
rs7187621	1.00[AMR][1000 genomes]
rs7197710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7204946	1.00[AMR][1000 genomes]
rs74018257	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018281	1.00[AMR][1000 genomes]
rs74018286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018288	0.98[AFR][1000 genomes]
rs74018289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018296	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48168200-48188800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:48172000-48186600	Weak transcription	Fetal Brain Male	brain

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