Variant report

Variant	rs11051064
Chromosome Location	chr12:30917779-30917780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30906552..30912004-chr12:30913131..30918158,9	K562	blood:
2	chr12:30917713..30919276-chr12:30930708..30932985,2	K562	blood:

Variant related genes	Relation type
ENSG00000246331	Chromatin interaction
ENSG00000110888	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10431223	0.84[EUR][1000 genomes]
rs11050960	0.84[EUR][1000 genomes]
rs11050962	0.84[EUR][1000 genomes]
rs11050963	0.84[EUR][1000 genomes]
rs11050964	0.84[EUR][1000 genomes]
rs11050965	0.84[EUR][1000 genomes]
rs11050975	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11050976	0.84[EUR][1000 genomes]
rs11050978	0.84[EUR][1000 genomes]
rs11050979	0.84[EUR][1000 genomes]
rs11050980	0.84[EUR][1000 genomes]
rs11050981	0.84[EUR][1000 genomes]
rs11050982	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11050995	0.84[EUR][1000 genomes]
rs11050996	0.84[EUR][1000 genomes]
rs11050997	0.84[EUR][1000 genomes]
rs11050998	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11050999	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11051000	0.84[EUR][1000 genomes]
rs11051001	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11051004	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11051011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051014	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051017	0.81[ASN][1000 genomes]
rs11051021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11051024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051031	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051032	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051036	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11051039	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051040	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11051057	1.00[AMR][1000 genomes]
rs11051060	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051067	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051074	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11534760	0.84[EUR][1000 genomes]
rs11561156	0.84[EUR][1000 genomes]
rs1157125	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11613738	0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12228212	0.84[EUR][1000 genomes]
rs12229358	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12229986	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12230006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230490	0.84[EUR][1000 genomes]
rs12231670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16906574	0.84[EUR][1000 genomes]
rs16906582	0.84[EUR][1000 genomes]
rs16906596	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16906601	0.84[EUR][1000 genomes]
rs16906606	0.84[EUR][1000 genomes]
rs16906713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16906758	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16916147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2114900	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3850958	0.84[EUR][1000 genomes]
rs3888018	0.82[JPT][hapmap]
rs3889761	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57735299	0.84[EUR][1000 genomes]
rs60712960	0.84[EUR][1000 genomes]
rs7970293	0.84[EUR][1000 genomes]
rs7977562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3371244	chr12:30916285-30920583	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30914800-30917800	Enhancers	HepG2	liver
2	chr12:30915400-30917800	Enhancers	K562	blood
3	chr12:30917200-30917800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:30917200-30917800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:30917200-30917800	Enhancers	NHEK	skin
6	chr12:30917200-30918200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:30917400-30917800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:30917400-30918000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:30917600-30918000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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