Variant report

Variant	rs7969536
Chromosome Location	chr12:51429257-51429258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51422213..51424368-chr12:51428694..51432123,3	MCF-7	breast:
2	chr12:51425185..51426824-chr12:51428471..51430298,2	K562	blood:
3	chr12:51418394..51420286-chr12:51428760..51431062,2	MCF-7	breast:
4	chr12:51418451..51421212-chr12:51428842..51430957,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110911	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1026994	1.00[ASN][1000 genomes]
rs10747603	1.00[ASN][1000 genomes]
rs10783411	1.00[ASN][1000 genomes]
rs10783412	1.00[ASN][1000 genomes]
rs10876126	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1095997	0.85[AMR][1000 genomes]
rs11169679	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423207	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs150909	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs161044	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs161045	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs161046	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs161047	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17229232	1.00[ASN][1000 genomes]
rs2029147	1.00[ASN][1000 genomes]
rs2046498	0.81[AMR][1000 genomes]
rs224564	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs224566	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs224569	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs224570	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs224573	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs224574	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs224576	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs224578	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs224585	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs224586	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs224590	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs224592	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs224593	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2554859	0.81[AMR][1000 genomes]
rs2630358	0.90[AMR][1000 genomes]
rs2630362	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630366	0.90[AMR][1000 genomes]
rs2630367	0.90[AMR][1000 genomes]
rs319930	0.90[AMR][1000 genomes]
rs319938	0.90[AMR][1000 genomes]
rs364627	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs390424	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394384	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs416062	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238110	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs435965	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs445520	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs452587	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768875	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4768959	1.00[ASN][1000 genomes]
rs55874852	0.90[AMR][1000 genomes]
rs58309379	1.00[ASN][1000 genomes]
rs613977	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618510	0.87[EUR][1000 genomes]
rs6580779	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580780	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580781	0.89[EUR][1000 genomes]
rs6580783	1.00[ASN][1000 genomes]
rs686528	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706803	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs706804	0.81[EUR][1000 genomes]
rs7299484	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969702	0.83[EUR][1000 genomes]
rs7971712	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972608	1.00[ASN][1000 genomes]
rs7974923	1.00[ASN][1000 genomes]
rs7975628	1.00[ASN][1000 genomes]
rs7977993	1.00[ASN][1000 genomes]
rs829021	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs853236	0.90[AMR][1000 genomes]
rs9739943	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7969536	SLC11A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51422800-51432000	Weak transcription	Stomach Mucosa	stomach
2	chr12:51423800-51431800	Weak transcription	Hela-S3	cervix
3	chr12:51428600-51429600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:51429200-51430000	Enhancers	HepG2	liver

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