Variant report

Variant	rs72892573
Chromosome Location	chr2:173378190-173378191
allele	A/C
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	SETDB1	chr2:173376226-173378366	K562	blood:	n/a	n/a
2	FOXA1	chr2:173377832-173378231	HepG2	liver:	n/a	n/a
3	SETDB1	chr2:173377369-173378220	U2OS	brain:	n/a	n/a
4	POLR2A	chr2:173378184-173379400	HL-60	blood:	n/a	n/a
5	FOXA2	chr2:173377829-173378230	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000225205	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10497383	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10497384	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11883720	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11887938	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11892037	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11896937	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11897024	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11898822	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1574258	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17676243	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17676773	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17677404	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17727678	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17727732	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17739735	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17739946	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2178475	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2272498	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36002642	0.86[ASN][1000 genomes]
rs3792255	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3792256	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3828342	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4074913	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405727	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4972510	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4972511	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972832	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4972836	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4972837	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55802347	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6433359	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6433360	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6715294	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6728123	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6728419	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6731691	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6746138	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6755605	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72892577	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892596	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72892601	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72894305	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72894375	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72894389	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72894396	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72894400	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72896105	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7566921	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 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	chr2:173356400-173379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:173372600-173379600	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:173375000-173380800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:173375400-173378400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr2:173375400-173378800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr2:173375400-173379200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:173375600-173378400	ZNF genes & repeats	Liver	Liver
8	chr2:173376000-173378400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr2:173376000-173378800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr2:173376000-173379000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr2:173376200-173378600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:173376400-173378400	ZNF genes & repeats	Primary B cells from cord blood	blood
13	chr2:173376400-173397400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:173377200-173386000	Weak transcription	Primary T cells from cord blood	blood
15	chr2:173377400-173380800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:173378000-173378200	Enhancers	Monocytes-CD14+_RO01746	blood

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