Variant report

Variant	rs463217
Chromosome Location	chr21:46047971-46047972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1883039	0.95[CEU][hapmap]
rs1883041	0.95[CEU][hapmap]
rs2256490	0.95[CEU][hapmap]
rs2329837	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2838601	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2838602	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2838610	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2838611	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2838614	0.90[CEU][hapmap]
rs2838617	0.95[CEU][hapmap]
rs2838618	0.95[CEU][hapmap]
rs2838624	0.95[CEU][hapmap]
rs2838625	0.95[CEU][hapmap]
rs2838627	0.95[CEU][hapmap]
rs28542851	0.86[CEU][hapmap]
rs2876970	0.83[CEU][hapmap]
rs3944594	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4818728	0.94[CEU][hapmap]
rs4818947	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4818952	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4818953	0.90[CEU][hapmap]
rs62219767	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7275203	0.95[CEU][hapmap]
rs7276421	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7280471	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7509675	0.86[CEU][hapmap]
rs762431	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs762433	0.82[EUR][1000 genomes]
rs8126553	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8129802	0.83[CEU][hapmap]
rs8132337	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8134285	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9284507	0.87[CEU][hapmap]
rs9984726	0.91[CEU][hapmap]

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:25 , 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	chr21:46046200-46049000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr21:46046400-46048000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr21:46046600-46048600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr21:46046600-46049000	Weak transcription	Left Ventricle	heart
9	chr21:46046600-46049200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr21:46047200-46049000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:46047400-46048000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:46047400-46048000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr21:46047400-46048000	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr21:46047400-46048600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:46047400-46049200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:46047400-46049200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr21:46047600-46048200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr21:46047600-46048400	Bivalent Enhancer	Placenta	Placenta
19	chr21:46047600-46049000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr21:46047600-46049000	Bivalent Enhancer	Fetal Stomach	stomach
21	chr21:46047800-46048000	Bivalent Enhancer	Adipose Nuclei	Adipose
22	chr21:46047800-46048800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr21:46047800-46049000	Enhancers	Fetal Lung	lung
24	chr21:46047800-46050600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr21:46047800-46051000	Enhancers	Primary T helper cells PMA-I stimulated	--

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