Variant report

Variant	rs13046630
Chromosome Location	chr21:15430004-15430005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13048438	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525599	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822383	0.88[EUR][1000 genomes]
rs2822384	0.87[EUR][1000 genomes]
rs34338538	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35178815	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35827720	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611722	0.91[EUR][1000 genomes]
rs60821881	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6516571	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7364079	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8129930	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1067433	chr21:14736298-15507502	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1055396	chr21:14756514-15507502	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats 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	32 gene(s)	inside rSNPs	diseases
4	nsv1062639	chr21:14775729-15507502	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	nsv587015	chr21:14957973-15448560	Genic enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1058072	chr21:15372509-15568171	Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv962721	chr21:15407136-15431964	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv1056787	chr21:15407504-15530291	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3442739	chr21:15428606-15431454	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13046630	ANKRD20A18P	cis	Esophagus Mucosa	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15401800-15452000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr21:15402600-15442400	Weak transcription	Dnd41	blood
3	chr21:15423000-15442200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:15423400-15455600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr21:15423600-15443000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:15425800-15443400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:15427000-15431400	Enhancers	Esophagus	oesophagus
8	chr21:15427000-15432000	ZNF genes & repeats	Fetal Stomach	stomach
9	chr21:15427000-15433000	ZNF genes & repeats	Fetal Brain Female	brain
10	chr21:15427200-15430200	Enhancers	Rectal Smooth Muscle	rectum
11	chr21:15427200-15431200	Enhancers	Hela-S3	cervix
12	chr21:15427200-15436200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:15427800-15431200	Enhancers	Stomach Smooth Muscle	stomach
14	chr21:15428200-15436000	Weak transcription	Right Atrium	heart
15	chr21:15428400-15430400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr21:15428800-15430800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
17	chr21:15428800-15431000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:15428800-15432200	ZNF genes & repeats	Brain Germinal Matrix	brain
19	chr21:15428800-15449000	Weak transcription	Fetal Lung	lung
20	chr21:15429000-15430600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr21:15429000-15431800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:15429200-15430200	Enhancers	Colon Smooth Muscle	Colon
23	chr21:15429200-15433800	Weak transcription	Thymus	Thymus
24	chr21:15429200-15436000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:15429400-15431400	Weak transcription	Lung	lung
26	chr21:15429400-15436000	Weak transcription	Pancreas	Pancrea
27	chr21:15429600-15430400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr21:15429600-15430600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr21:15429600-15431400	Weak transcription	Gastric	stomach
30	chr21:15429800-15431200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr21:15429800-15431200	Enhancers	HMEC	breast
32	chr21:15429800-15431600	Weak transcription	Ovary	ovary
33	chr21:15430000-15430400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:15430000-15430400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr21:15430000-15430400	Enhancers	A549	lung
36	chr21:15430000-15430800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr21:15430000-15431000	Weak transcription	Spleen	Spleen
38	chr21:15430000-15431600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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