Variant report

Variant	rs12482507
Chromosome Location	chr21:15488699-15488700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1115648	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1136522	0.80[ASN][1000 genomes]
rs12627315	0.80[ASN][1000 genomes]
rs13048561	0.80[ASN][1000 genomes]
rs13050604	0.80[ASN][1000 genomes]
rs13050925	0.80[ASN][1000 genomes]
rs1556277	0.80[ASN][1000 genomes]
rs1970046	0.94[ASN][1000 genomes]
rs2155971	0.94[ASN][1000 genomes]
rs2226730	0.80[ASN][1000 genomes]
rs4539869	0.80[ASN][1000 genomes]
rs4541312	0.80[ASN][1000 genomes]
rs4816227	0.89[ASN][1000 genomes]
rs4816961	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56812774	0.80[ASN][1000 genomes]
rs58025195	0.80[ASN][1000 genomes]
rs58841158	0.80[ASN][1000 genomes]
rs59808785	0.80[ASN][1000 genomes]
rs59901297	0.80[ASN][1000 genomes]
rs7278737	0.80[ASN][1000 genomes]
rs7279700	0.80[ASN][1000 genomes]
rs8132149	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9982308	0.80[ASN][1000 genomes]
rs9983541	0.80[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	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
6	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
7	esv1827667	chr21:15442582-15521121	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv869466	chr21:15482572-15683385	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1065433	chr21:15484229-15528702	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15474000-15489200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr21:15474600-15489600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr21:15475800-15494600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:15477600-15498000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:15478000-15495200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr21:15480400-15497200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:15486000-15494000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr21:15486200-15496600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:15487400-15489600	Enhancers	Primary B cells from peripheral blood	blood
10	chr21:15487800-15489000	Enhancers	Esophagus	oesophagus
11	chr21:15488000-15488800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:15488400-15488800	Enhancers	Spleen	Spleen
13	chr21:15488600-15488800	Enhancers	Gastric	stomach
14	chr21:15488600-15489400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:15488600-15489600	Enhancers	GM12878-XiMat	blood
16	chr21:15488600-15494200	Weak transcription	Dnd41	blood

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