Variant report

Variant	rs11051060
Chromosome Location	chr12:30910838-30910839
allele	A/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	CEBPB	chr12:30910783-30911015	K562	blood:	n/a	n/a
2	GATA1	chr12:30909837-30910843	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:30901889..30903622-chr12:30908915..30911162,2	K562	blood:
2	chr12:30910152..30913762-chr12:30918639..30921470,3	MCF-7	breast:
3	chr12:30906665..30909389-chr12:30910483..30912291,3	K562	blood:

Variant related genes	Relation type
CAPRIN2	TF binding region
ENSG00000110888	Chromatin interaction
ENSG00000246331	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11050975	1.00[AMR][1000 genomes]
rs11050982	1.00[AMR][1000 genomes]
rs11050998	1.00[AMR][1000 genomes]
rs11050999	1.00[AMR][1000 genomes]
rs11051001	1.00[AMR][1000 genomes]
rs11051004	1.00[AMR][1000 genomes]
rs11051011	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051014	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051016	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051017	0.81[ASN][1000 genomes]
rs11051021	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11051024	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051025	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051031	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051032	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051036	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11051039	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051040	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051043	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11051057	1.00[AMR][1000 genomes]
rs11051064	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051067	1.00[AMR][1000 genomes]
rs11051074	1.00[AMR][1000 genomes]
rs1157125	1.00[AMR][1000 genomes]
rs11613738	0.83[ASN][1000 genomes]
rs12229358	1.00[AMR][1000 genomes]
rs12229986	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12230006	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231670	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16906596	1.00[AMR][1000 genomes]
rs16906713	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16906758	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16916147	1.00[AMR][1000 genomes]
rs2114900	1.00[AMR][1000 genomes]
rs3889761	1.00[AMR][1000 genomes]
rs7977562	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30908600-30911400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:30908800-30915200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:30909200-30914800	Weak transcription	HepG2	liver
4	chr12:30909600-30915800	Weak transcription	Pancreas	Pancrea
5	chr12:30910800-30912000	Enhancers	K562	blood

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