Variant report

Variant	rs12318518
Chromosome Location	chr12:67788289-67788290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67773965..67776941-chr12:67786704..67788501,2	MCF-7	breast:
2	chr12:67779762..67781481-chr12:67788045..67789679,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10128823	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10129028	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176672	1.00[EUR][1000 genomes]
rs11176676	1.00[EUR][1000 genomes]
rs11176679	1.00[EUR][1000 genomes]
rs11176684	1.00[EUR][1000 genomes]
rs11176691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176692	1.00[EUR][1000 genomes]
rs11176693	1.00[EUR][1000 genomes]
rs11176694	1.00[EUR][1000 genomes]
rs11176715	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176740	1.00[EUR][1000 genomes]
rs11176784	1.00[EUR][1000 genomes]
rs11503726	1.00[EUR][1000 genomes]
rs12297966	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299042	1.00[EUR][1000 genomes]
rs12299097	1.00[EUR][1000 genomes]
rs12300582	1.00[EUR][1000 genomes]
rs12303089	1.00[EUR][1000 genomes]
rs12306375	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307363	1.00[EUR][1000 genomes]
rs12307464	1.00[EUR][1000 genomes]
rs12311491	1.00[EUR][1000 genomes]
rs12311797	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311840	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311845	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12312040	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313282	1.00[EUR][1000 genomes]
rs12314503	1.00[EUR][1000 genomes]
rs12315624	1.00[EUR][1000 genomes]
rs12318591	1.00[EUR][1000 genomes]
rs12318995	1.00[EUR][1000 genomes]
rs12320566	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321292	1.00[EUR][1000 genomes]
rs12321396	1.00[EUR][1000 genomes]
rs12322901	1.00[EUR][1000 genomes]
rs17103652	1.00[EUR][1000 genomes]
rs17103772	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17120707	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17120710	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4083304	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57886620	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61504642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6581751	1.00[EUR][1000 genomes]
rs7135195	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7138362	1.00[EUR][1000 genomes]
rs7294827	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7306853	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7307643	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7312079	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73320752	1.00[EUR][1000 genomes]
rs73322616	1.00[EUR][1000 genomes]
rs73326445	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73326448	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73326466	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7954999	1.00[EUR][1000 genomes]
rs7964763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7966031	1.00[EUR][1000 genomes]
rs7977574	1.00[EUR][1000 genomes]
rs9989007	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9989023	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67782600-67788400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:67787200-67789000	Enhancers	Fetal Muscle Leg	muscle
3	chr12:67787600-67788400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:67787600-67789400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:67787800-67788400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr12:67787800-67789200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:67788000-67789000	Enhancers	NH-A	brain
8	chr12:67788000-67789200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:67788000-67789200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:67788000-67789200	Enhancers	HMEC	breast
11	chr12:67788000-67789200	Enhancers	NHEK	skin
12	chr12:67788200-67788600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:67788200-67788600	Enhancers	Brain Substantia Nigra	brain
14	chr12:67788200-67788600	Enhancers	Osteobl	bone
15	chr12:67788200-67788800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:67788200-67788800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:67788200-67788800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:67788200-67788800	Enhancers	Adipose Nuclei	Adipose
19	chr12:67788200-67788800	Enhancers	Fetal Lung	lung
20	chr12:67788200-67788800	Enhancers	Psoas Muscle	Psoas
21	chr12:67788200-67789000	Enhancers	HSMMtube	muscle
22	chr12:67788200-67789200	Enhancers	Cortex derived primary cultured neurospheres	brain

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