Variant report

Variant	rs4372991
Chromosome Location	chr21:40929648-40929649
allele	A/G
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]
rs11088484	0.93[ASN][1000 genomes]
rs12626648	0.83[ASN][1000 genomes]
rs12626661	0.88[ASN][1000 genomes]
rs2837075	0.94[ASN][1000 genomes]
rs28644269	0.93[ASN][1000 genomes]
rs4818051	0.83[ASN][1000 genomes]
rs516888	0.88[ASN][1000 genomes]
rs517871	0.88[ASN][1000 genomes]
rs521559	0.88[ASN][1000 genomes]
rs527987	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56178310	0.84[ASN][1000 genomes]
rs574863	0.88[ASN][1000 genomes]
rs587935	0.88[ASN][1000 genomes]
rs588903	0.88[ASN][1000 genomes]
rs619766	0.88[ASN][1000 genomes]
rs656582	0.85[ASN][1000 genomes]
rs656618	0.92[ASN][1000 genomes]
rs670316	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs680944	0.88[ASN][1000 genomes]
rs681447	0.88[ASN][1000 genomes]
rs7410119	0.94[ASN][1000 genomes]
rs8127424	0.92[ASN][1000 genomes]
rs8128108	0.92[ASN][1000 genomes]
rs8130455	0.84[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	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2756754	chr21:40857523-40966156	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2758820	chr21:40857523-40966156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv34779	chr21:40884871-40977473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv433457	chr21:40900348-40964553	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	esv17842	chr21:40918970-40965975	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40926800-40932600	Weak transcription	Right Ventricle	heart
2	chr21:40928000-40935600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:40928400-40931400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr21:40928400-40934200	Weak transcription	Brain Germinal Matrix	brain
5	chr21:40928600-40934800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr21:40928600-40936800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr21:40928600-40940200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr21:40928800-40934200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr21:40928800-40934400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr21:40928800-40934400	Weak transcription	Brain Anterior Caudate	brain
11	chr21:40928800-40934400	Weak transcription	Fetal Brain Male	brain
12	chr21:40928800-40934400	Weak transcription	Fetal Brain Female	brain
13	chr21:40928800-40935000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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