Variant report

Variant	rs12279069
Chromosome Location	chr11:59313921-59313922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:59313138..59315847-chr11:59354550..59357192,2	K562	blood:
2	chr11:59313058..59315835-chr11:59384202..59386133,2	K562	blood:
3	chr11:59313285..59315331-chr6:27779398..27781335,2	K562	blood:
4	chr11:59312958..59315915-chr11:59381539..59383826,3	K562	blood:
5	chr11:59313248..59321957-chr11:59433786..59439304,14	K562	blood:

Variant related genes	Relation type
ENSG00000110048	Chromatin interaction
ENSG00000166889	Chromatin interaction
ENSG00000255355	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11230007	1.00[AMR][1000 genomes]
rs12275697	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12275857	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs12275939	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12276264	0.86[ASW][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs12280801	1.00[AMR][1000 genomes]
rs12281446	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12282534	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12282585	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12283245	1.00[AMR][1000 genomes]
rs12285516	1.00[AMR][1000 genomes]
rs12287360	1.00[AMR][1000 genomes]
rs12291105	1.00[AMR][1000 genomes]
rs12292726	1.00[AMR][1000 genomes]
rs2228289	1.00[AMR][1000 genomes]
rs55861319	1.00[AMR][1000 genomes]
rs55924869	1.00[AMR][1000 genomes]
rs56198198	1.00[AMR][1000 genomes]
rs57004175	1.00[AMR][1000 genomes]
rs57174205	1.00[AMR][1000 genomes]
rs58462134	1.00[AMR][1000 genomes]
rs60249922	1.00[AMR][1000 genomes]
rs7117032	0.86[ASW][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs73484843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484869	1.00[AMR][1000 genomes]
rs73484887	1.00[AMR][1000 genomes]
rs73486954	1.00[AMR][1000 genomes]
rs73486999	1.00[AMR][1000 genomes]
rs73488817	1.00[AMR][1000 genomes]
rs73488858	1.00[AMR][1000 genomes]
rs7949552	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][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	nsv1046084	chr11:59034871-59314519	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv972925	chr11:59299418-59314660	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59305400-59316600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:59305600-59317000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:59305600-59317200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:59312600-59317000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:59313000-59314200	Enhancers	Placenta	Placenta
6	chr11:59313000-59316600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:59313200-59314400	Active TSS	K562	blood
8	chr11:59313200-59315400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:59313200-59316200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:59313200-59316200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:59313400-59315200	Weak transcription	HUVEC	blood vessel
12	chr11:59313400-59315200	Weak transcription	Osteobl	bone
13	chr11:59313400-59316600	Weak transcription	NHEK	skin
14	chr11:59313600-59314000	Enhancers	A549	lung
15	chr11:59313600-59315200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:59313600-59316400	Weak transcription	NH-A	brain
17	chr11:59313800-59315200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:59313800-59315200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:59313800-59315800	Enhancers	Ovary	ovary

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