Variant report

Variant	rs12050415
Chromosome Location	chr14:32183698-32183699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10133374	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10138795	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10140944	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11156699	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11624477	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12050202	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12897779	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1373013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1373014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1373015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2120134	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4981115	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59626793	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6571457	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6571461	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7146010	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7153589	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8008383	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8009008	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8013999	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8015946	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8018230	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv901591	chr14:32093548-32202677	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv901592	chr14:32093548-32267323	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr14:32159000-32184800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:32162000-32186800	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:32165600-32188200	Weak transcription	Right Ventricle	heart
4	chr14:32171000-32186400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:32171000-32200600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:32172000-32186400	Weak transcription	Pancreas	Pancrea
7	chr14:32172000-32188200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:32173400-32186400	Weak transcription	Esophagus	oesophagus
9	chr14:32173400-32189800	Weak transcription	Primary B cells from cord blood	blood
10	chr14:32173400-32218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:32174200-32185600	Weak transcription	HepG2	liver
12	chr14:32174600-32200000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:32175200-32186600	Weak transcription	Primary T cells from cord blood	blood
14	chr14:32175200-32186600	Weak transcription	Adipose Nuclei	Adipose
15	chr14:32175200-32187000	Weak transcription	Aorta	Aorta
16	chr14:32175400-32185200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:32175400-32187000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:32175400-32193400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:32175400-32205600	Weak transcription	Ovary	ovary
20	chr14:32175600-32185200	Weak transcription	Fetal Intestine Small	intestine
21	chr14:32179000-32186200	Weak transcription	Liver	Liver
22	chr14:32181400-32200600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:32181800-32185200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:32182000-32183800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:32182000-32185200	Weak transcription	Fetal Stomach	stomach
26	chr14:32182000-32186600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:32183400-32183800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:32183600-32183800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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