Variant report

Variant	rs743495
Chromosome Location	chr21:46049377-46049378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1076849	0.93[AFR][1000 genomes]
rs12627686	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2020088	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329835	0.86[AFR][1000 genomes]
rs2838595	0.82[ASN][1000 genomes]
rs2838601	0.94[ASN][1000 genomes]
rs28542851	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2876970	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28817630	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs450639	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4818946	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4818947	0.90[ASN][1000 genomes]
rs4818950	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4818951	0.84[ASN][1000 genomes]
rs62219767	0.81[ASN][1000 genomes]
rs6518197	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7509675	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8126553	0.89[ASN][1000 genomes]
rs8127342	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8129802	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8131142	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8132337	0.95[ASN][1000 genomes]
rs8134285	0.83[ASN][1000 genomes]
rs9284507	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9808722	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9979457	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9979752	0.83[AFR][1000 genomes]
rs9980129	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9980512	0.81[AFR][1000 genomes]
rs9982138	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[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:18 , 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	chr21:46048600-46049400	Bivalent Enhancer	Placenta	Placenta
8	chr21:46048600-46050200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr21:46048600-46050800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr21:46048600-46050800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr21:46048800-46050600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr21:46048800-46050600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr21:46048800-46050800	Enhancers	Primary T cells from cord blood	blood
14	chr21:46049000-46050000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr21:46049000-46056800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:46049200-46049800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr21:46049200-46050800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr21:46049200-46060400	Weak transcription	Right Atrium	heart

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