Variant report

Variant	rs4819153
Chromosome Location	chr21:47252135-47252136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11700891	0.93[ASN][1000 genomes]
rs12106367	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1810871	0.93[ASN][1000 genomes]
rs2330247	1.00[ASN][1000 genomes]
rs2839022	0.93[ASN][1000 genomes]
rs2877094	1.00[ASN][1000 genomes]
rs34530304	0.88[ASN][1000 genomes]
rs4818806	0.88[ASN][1000 genomes]
rs4818807	0.88[ASN][1000 genomes]
rs7279037	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73382517	0.88[ASN][1000 genomes]
rs8127512	0.88[ASN][1000 genomes]
rs9978480	0.82[EUR][1000 genomes]
rs9983643	1.00[ASN][1000 genomes]
rs9983803	0.93[ASN][1000 genomes]
rs9984438	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv428043	chr21:47179244-47471971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
9	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
10	nsv914078	chr21:47218744-47311686	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
11	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
12	esv2756755	chr21:47243032-47319768	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
13	esv2758821	chr21:47243032-47319768	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
14	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47217800-47260400	Weak transcription	Right Atrium	heart
2	chr21:47240600-47256600	Weak transcription	Dnd41	blood
3	chr21:47241000-47255400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:47241600-47257400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr21:47241800-47257600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:47247000-47257600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr21:47247200-47257000	Weak transcription	Spleen	Spleen
8	chr21:47248000-47257200	Weak transcription	Primary T cells from cord blood	blood
9	chr21:47248600-47253800	Enhancers	Adipose Nuclei	Adipose
10	chr21:47249200-47253400	Weak transcription	Thymus	Thymus
11	chr21:47249800-47256000	Weak transcription	Fetal Lung	lung
12	chr21:47250000-47252400	Weak transcription	Right Ventricle	heart
13	chr21:47250600-47255200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:47250600-47255400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:47250800-47256200	Weak transcription	Fetal Kidney	kidney
16	chr21:47251000-47254000	Weak transcription	Brain Substantia Nigra	brain
17	chr21:47251000-47258800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr21:47251200-47252400	Weak transcription	Fetal Thymus	thymus
19	chr21:47251200-47256200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:47251400-47252400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr21:47251600-47252200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr21:47251600-47253800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:47251600-47253800	Enhancers	Fetal Muscle Leg	muscle
24	chr21:47251800-47252800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr21:47251800-47253800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:47252000-47252200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr21:47252000-47252200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr21:47252000-47252600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:47252000-47253000	Enhancers	Placenta	Placenta
30	chr21:47252000-47253600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:47252000-47253800	Enhancers	Brain Hippocampus Middle	brain
32	chr21:47252000-47253800	Enhancers	HSMM	muscle
33	chr21:47252000-47254000	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links