Variant report

Variant	rs62220926
Chromosome Location	chr21:46047348-46047349
allele	C/T
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	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11910181	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11910263	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11910292	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329836	1.00[ASN][1000 genomes]
rs60859607	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60939800	1.00[ASN][1000 genomes]
rs61375020	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62219768	1.00[ASN][1000 genomes]
rs62219769	1.00[ASN][1000 genomes]
rs62219772	1.00[ASN][1000 genomes]
rs62220922	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62220923	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62220924	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62220925	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62220927	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762435	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762436	0.97[AMR][1000 genomes];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	chr21:46018400-46048400	Weak transcription	Right Atrium	heart
2	chr21:46045000-46050000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr21:46045200-46050000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr21:46045400-46051000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr21:46045800-46047600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr21:46045800-46047800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr21:46046200-46047600	Enhancers	Spleen	Spleen
8	chr21:46046200-46049000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr21:46046400-46048000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr21:46046600-46047400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr21:46046600-46047600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr21:46046600-46047800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr21:46046600-46048600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr21:46046600-46049000	Weak transcription	Left Ventricle	heart
15	chr21:46046600-46049200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr21:46047200-46047800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
17	chr21:46047200-46049000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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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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