Variant report

Variant	rs62219769
Chromosome Location	chr21:46049854-46049855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11909996	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11910181	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11910263	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11910292	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329836	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60859607	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60939800	1.00[ASN][1000 genomes]
rs61375020	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62219768	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62219772	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62220922	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62220923	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62220924	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62220925	1.00[ASN][1000 genomes]
rs62220926	1.00[ASN][1000 genomes]
rs62220927	1.00[ASN][1000 genomes]
rs762435	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762436	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46045000-46050000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr21:46045200-46050000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr21:46045400-46051000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr21:46047800-46050600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr21:46047800-46051000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr21:46048400-46050000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr21:46048600-46050200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr21:46048600-46050800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr21:46048600-46050800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr21:46048800-46050600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr21:46048800-46050600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr21:46048800-46050800	Enhancers	Primary T cells from cord blood	blood
13	chr21:46049000-46050000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr21:46049000-46056800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:46049200-46050800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr21:46049200-46060400	Weak transcription	Right Atrium	heart
17	chr21:46049800-46050800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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