Variant report

Variant	rs9984476
Chromosome Location	chr21:46101939-46101940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:46101879-46101940	Fibrobl	skin:	n/a	n/a
2	MYC	chr21:46101847-46102080	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46096720..46098322-chr21:46101281..46103143,2	K562	blood:

Variant related genes	Relation type
IMMTP1	TF binding region
ENSG00000229880	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11909180	0.96[ASN][1000 genomes]
rs12481809	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12483730	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2243667	0.96[ASN][1000 genomes]
rs2838626	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838630	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838639	0.96[ASN][1000 genomes]
rs2838645	0.93[ASN][1000 genomes]
rs2838649	0.91[ASN][1000 genomes]
rs28796990	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs28797484	0.98[ASN][1000 genomes]
rs4818729	0.81[ASN][1000 genomes]
rs55914221	0.82[ASN][1000 genomes]
rs56829302	0.90[ASN][1000 genomes]
rs60154040	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60327918	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60681728	0.96[ASN][1000 genomes]
rs7283084	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283406	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8132905	0.98[ASN][1000 genomes]
rs9637188	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974365	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9975249	0.96[ASN][1000 genomes]
rs9979168	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9980087	0.98[ASN][1000 genomes]
rs9981523	0.98[ASN][1000 genomes]
rs9981573	0.91[ASN][1000 genomes]
rs9981618	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9982002	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription 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	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46094200-46106800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:46098200-46104600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46101000-46122200	Weak transcription	Right Atrium	heart
4	chr21:46101800-46102000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr21:46101800-46102200	Enhancers	Fetal Brain Male	brain

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