Variant report

Variant	rs11919310
Chromosome Location	chr3:133469324-133469325
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11915225	1.00[AMR][1000 genomes]
rs41298987	1.00[AMR][1000 genomes]
rs58912773	1.00[AMR][1000 genomes]
rs60288118	1.00[AMR][1000 genomes]
rs6775081	1.00[AMR][1000 genomes]
rs6803647	1.00[AMR][1000 genomes]
rs72976364	1.00[AMR][1000 genomes]
rs72976365	1.00[AMR][1000 genomes]
rs8177195	1.00[AMR][1000 genomes]
rs8177200	1.00[AMR][1000 genomes]
rs8177202	1.00[AMR][1000 genomes]
rs8177226	1.00[AMR][1000 genomes]
rs8177229	1.00[AMR][1000 genomes]
rs8177234	1.00[AMR][1000 genomes]
rs8177238	1.00[AMR][1000 genomes]
rs8177242	1.00[AMR][1000 genomes]
rs8177246	1.00[AMR][1000 genomes]
rs8177255	1.00[AMR][1000 genomes]
rs8177281	1.00[AMR][1000 genomes]
rs8177282	1.00[AMR][1000 genomes]
rs8177284	1.00[AMR][1000 genomes]
rs8177286	1.00[AMR][1000 genomes]
rs8177298	1.00[AMR][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	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv877507	chr3:133465201-133473516	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133465600-133483000	Weak transcription	Brain Germinal Matrix	brain
2	chr3:133465800-133470000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:133466800-133476800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:133467000-133469400	Transcr. at gene 5' and 3'	Liver	Liver
5	chr3:133467000-133470000	Transcr. at gene 5' and 3'	HepG2	liver
6	chr3:133467600-133469600	Enhancers	K562	blood
7	chr3:133468400-133469400	Enhancers	Esophagus	oesophagus
8	chr3:133468400-133469600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:133468600-133469600	Enhancers	Fetal Muscle Leg	muscle
10	chr3:133468800-133469600	Enhancers	Adipose Nuclei	Adipose
11	chr3:133469000-133469400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:133469000-133469600	Enhancers	Fetal Stomach	stomach
13	chr3:133469000-133469600	Enhancers	Pancreas	Pancrea
14	chr3:133469200-133469400	Flanking Active TSS	Brain Angular Gyrus	brain
15	chr3:133469200-133469400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr3:133469200-133469400	Enhancers	NHEK	skin
17	chr3:133469200-133469600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:133469200-133469600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:133469200-133469600	Active TSS	Brain Anterior Caudate	brain
20	chr3:133469200-133469600	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr3:133469200-133469600	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr3:133469200-133469600	Active TSS	Brain Substantia Nigra	brain
23	chr3:133469200-133469600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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