Variant report

Variant	rs2114900
Chromosome Location	chr12:30919900-30919901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:30908038..30909570-chr12:30918182..30920609,2	K562	blood:
2	chr12:30910152..30913762-chr12:30918639..30921470,3	MCF-7	breast:
3	chr12:30919288..30921855-chr12:30972416..30974087,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10431223	0.92[EUR][1000 genomes]
rs11050959	0.82[EUR][1000 genomes]
rs11050960	0.92[EUR][1000 genomes]
rs11050961	0.82[EUR][1000 genomes]
rs11050962	0.92[EUR][1000 genomes]
rs11050963	0.92[EUR][1000 genomes]
rs11050964	0.92[EUR][1000 genomes]
rs11050965	0.92[EUR][1000 genomes]
rs11050973	0.82[EUR][1000 genomes]
rs11050974	0.82[EUR][1000 genomes]
rs11050975	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11050976	0.92[EUR][1000 genomes]
rs11050977	0.82[EUR][1000 genomes]
rs11050978	0.92[EUR][1000 genomes]
rs11050979	0.92[EUR][1000 genomes]
rs11050980	0.92[EUR][1000 genomes]
rs11050981	0.92[EUR][1000 genomes]
rs11050982	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11050995	0.92[EUR][1000 genomes]
rs11050996	0.92[EUR][1000 genomes]
rs11050997	0.92[EUR][1000 genomes]
rs11050998	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11050999	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051000	0.92[EUR][1000 genomes]
rs11051001	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051004	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051011	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051014	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051016	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051021	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051024	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051025	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051031	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051032	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051036	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051039	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051040	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051043	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051057	1.00[AMR][1000 genomes]
rs11051060	1.00[AMR][1000 genomes]
rs11051064	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11051074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11051078	0.82[EUR][1000 genomes]
rs11531057	0.84[EUR][1000 genomes]
rs11534760	0.92[EUR][1000 genomes]
rs11561156	0.92[EUR][1000 genomes]
rs1157125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12228212	0.92[EUR][1000 genomes]
rs12229358	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12229986	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12230006	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12230490	0.92[EUR][1000 genomes]
rs12231670	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16906574	0.92[EUR][1000 genomes]
rs16906582	0.92[EUR][1000 genomes]
rs16906596	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16906601	0.92[EUR][1000 genomes]
rs16906606	0.92[EUR][1000 genomes]
rs16906713	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16906758	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16916147	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1843308	0.81[AFR][1000 genomes]
rs3850958	0.92[EUR][1000 genomes]
rs3889761	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3898255	0.84[EUR][1000 genomes]
rs57735299	0.92[EUR][1000 genomes]
rs60712960	0.92[EUR][1000 genomes]
rs7968944	0.81[AFR][1000 genomes]
rs7970293	0.92[EUR][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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30918200-30924200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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