Variant report

Variant	rs12329693
Chromosome Location	chr21:17054470-17054471
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs12329910	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12329925	0.86[EUR][1000 genomes]
rs2242674	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2242873	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2243324	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2823431	1.00[EUR][1000 genomes]
rs2823432	0.86[EUR][1000 genomes]
rs2823436	0.86[EUR][1000 genomes]
rs2823446	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28439685	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28479854	0.88[AFR][1000 genomes]
rs28694473	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28705330	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8133234	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9976449	0.86[EUR][1000 genomes]
rs9977277	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9977809	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9978054	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9978242	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9981453	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9984107	1.00[EUR][1000 genomes]
rs9984112	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758530	chr21:16912646-17096678	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2758810	chr21:16912646-17096678	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	esv2830057	chr21:16960590-17113148	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv1056833	chr21:17018524-17086705	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv1844987	chr21:17033833-17088977	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17041800-17054600	Weak transcription	NHLF	lung
2	chr21:17054200-17055000	Enhancers	Dnd41	blood
3	chr21:17054200-17055400	Flanking Active TSS	HUVEC	blood vessel
4	chr21:17054200-17055800	Enhancers	Primary B cells from cord blood	blood
5	chr21:17054200-17055800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr21:17054200-17056000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:17054200-17056000	Enhancers	Hela-S3	cervix
8	chr21:17054200-17056400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr21:17054400-17054800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr21:17054400-17054800	Flanking Active TSS	HepG2	liver
11	chr21:17054400-17055000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr21:17054400-17055000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr21:17054400-17055200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr21:17054400-17055200	Enhancers	Primary hematopoietic stem cells	blood
15	chr21:17054400-17055200	Enhancers	Fetal Lung	lung
16	chr21:17054400-17055200	Enhancers	Osteobl	bone
17	chr21:17054400-17055600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr21:17054400-17055600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:17054400-17055800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr21:17054400-17055800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr21:17054400-17055800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr21:17054400-17055800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:17054400-17055800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr21:17054400-17055800	Enhancers	Placenta	Placenta
25	chr21:17054400-17055800	Enhancers	HMEC	breast
26	chr21:17054400-17055800	Enhancers	NHDF-Ad	bronchial
27	chr21:17054400-17055800	Enhancers	NHEK	skin

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