Variant report

Variant	rs7276207
Chromosome Location	chr21:45414119-45414120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45411686..45414596-chr21:45429639..45431651,4	K562	blood:
2	chr21:45413723..45415813-chr21:45464864..45467470,2	K562	blood:
3	chr21:45412059..45414701-chr21:45426081..45427962,2	MCF-7	breast:
4	chr21:45229248..45232086-chr21:45413999..45415810,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213440	Chromatin interaction
ENSG00000215458	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11702855	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs14151	0.86[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs2254072	0.82[CHB][hapmap]
rs2838455	0.82[CHB][hapmap]
rs2838456	0.95[MEX][hapmap]
rs2838458	0.82[CHB][hapmap]
rs2838460	0.89[CEU][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap]
rs3788096	0.82[CHB][hapmap]
rs4819356	0.89[CEU][hapmap]
rs4819359	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4819360	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62229730	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6518343	1.00[ASN][1000 genomes]
rs7276281	1.00[ASN][1000 genomes]
rs7282631	0.86[CHB][hapmap]
rs743469	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs915876	0.82[CHB][hapmap]
rs9978441	0.89[CEU][hapmap]
rs9983354	0.89[CEU][hapmap];0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7276207	AIRE	cis	parietal	SCAN
rs7276207	MCM3AP	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
2	chr21:45404000-45417400	Weak transcription	Gastric	stomach
3	chr21:45412000-45414400	Enhancers	Placenta	Placenta
4	chr21:45412800-45414400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:45413200-45414400	Flanking Bivalent TSS/Enh	HepG2	liver
6	chr21:45413400-45414200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:45413400-45414200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr21:45413400-45414400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:45413400-45414400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:45413400-45414400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr21:45413400-45414600	Enhancers	Brain Cingulate Gyrus	brain
12	chr21:45413400-45415200	Enhancers	Spleen	Spleen
13	chr21:45413600-45414400	Enhancers	Brain Substantia Nigra	brain
14	chr21:45413600-45414400	Enhancers	HSMM	muscle
15	chr21:45413600-45414600	Enhancers	Brain Hippocampus Middle	brain
16	chr21:45413800-45414400	Enhancers	Brain Angular Gyrus	brain
17	chr21:45413800-45414600	Enhancers	HSMMtube	muscle
18	chr21:45414000-45414200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr21:45414000-45414400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr21:45414000-45419200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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