Variant report

Variant	rs12274634
Chromosome Location	chr11:121530814-121530815
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:121524308..121528407-chr11:121529156..121532838,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11218400	1.00[AMR][1000 genomes]
rs12272537	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57805028	1.00[AMR][1000 genomes]
rs58761437	1.00[AMR][1000 genomes]
rs59726331	1.00[AMR][1000 genomes]
rs61396246	1.00[AMR][1000 genomes]
rs73585700	1.00[AMR][1000 genomes]
rs73597310	1.00[AMR][1000 genomes]
rs73597354	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73597368	1.00[AMR][1000 genomes]
rs73597373	1.00[AMR][1000 genomes]
rs73597375	1.00[AMR][1000 genomes]
rs73597383	1.00[AMR][1000 genomes]
rs73601389	1.00[AMR][1000 genomes]
rs73601397	1.00[AMR][1000 genomes]
rs73603317	1.00[AMR][1000 genomes]
rs73603321	1.00[AMR][1000 genomes]
rs73603334	1.00[AMR][1000 genomes]
rs73603339	1.00[AMR][1000 genomes]
rs73603344	1.00[AMR][1000 genomes]
rs73603355	1.00[AMR][1000 genomes]
rs73603368	1.00[AMR][1000 genomes]
rs7934967	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv975233	chr11:121359656-121574786	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34768	chr11:121452651-121534938	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv818867	chr11:121472993-121534938	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2757477	chr11:121473598-121540642	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759866	chr11:121473598-121540642	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121525800-121543400	Weak transcription	Gastric	stomach
2	chr11:121527600-121532000	Weak transcription	Lung	lung
3	chr11:121527600-121532600	Weak transcription	HMEC	breast
4	chr11:121527600-121533000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:121527800-121532200	Weak transcription	Adipose Nuclei	Adipose
6	chr11:121527800-121535800	Weak transcription	Right Atrium	heart
7	chr11:121528000-121532000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:121528000-121532000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:121528000-121532000	Weak transcription	Osteobl	bone
10	chr11:121528000-121532200	Weak transcription	HSMM	muscle
11	chr11:121528200-121532000	Weak transcription	NH-A	brain
12	chr11:121528200-121532000	Weak transcription	NHLF	lung
13	chr11:121528400-121531400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:121528400-121532000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:121528400-121532000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:121528400-121532600	Weak transcription	Brain Germinal Matrix	brain
17	chr11:121528400-121532600	Weak transcription	HSMMtube	muscle
18	chr11:121528400-121532800	Weak transcription	Brain Anterior Caudate	brain
19	chr11:121528400-121533000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:121528400-121536200	Weak transcription	Brain Substantia Nigra	brain
21	chr11:121528400-121538600	Weak transcription	Fetal Brain Female	brain
22	chr11:121528600-121532000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:121528600-121540200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:121529800-121533800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:121530200-121532600	Weak transcription	HepG2	liver
26	chr11:121530400-121531400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:121530600-121531000	Weak transcription	NHDF-Ad	bronchial
28	chr11:121530800-121532200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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