Variant report

Variant	rs8126553
Chromosome Location	chr21:46047418-46047419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12627686	0.85[ASN][1000 genomes]
rs1883041	0.81[AMR][1000 genomes]
rs2020088	0.89[ASN][1000 genomes]
rs2073437	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2256490	0.81[AMR][1000 genomes]
rs2329837	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2838595	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838601	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838602	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2838610	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2838611	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2838614	0.84[AMR][1000 genomes]
rs2838617	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2838618	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2838624	0.81[AMR][1000 genomes]
rs2838625	0.81[AMR][1000 genomes]
rs28542851	0.83[ASN][1000 genomes]
rs2876970	0.85[ASN][1000 genomes]
rs28817630	0.89[ASN][1000 genomes]
rs34979768	0.81[AMR][1000 genomes]
rs3944594	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3966427	0.84[AMR][1000 genomes]
rs450639	0.87[ASN][1000 genomes]
rs463217	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4818728	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4818946	0.88[ASN][1000 genomes]
rs4818947	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4818950	0.84[ASN][1000 genomes]
rs4818951	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4818952	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62219767	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6518197	0.87[ASN][1000 genomes]
rs7275203	0.81[AMR][1000 genomes]
rs7276421	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7280471	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs743495	0.89[ASN][1000 genomes]
rs7509675	0.85[ASN][1000 genomes]
rs762431	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs762433	0.85[EUR][1000 genomes]
rs8127342	0.89[ASN][1000 genomes]
rs8129802	0.89[ASN][1000 genomes]
rs8131142	0.90[ASN][1000 genomes]
rs8132337	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8134285	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9284507	0.88[ASN][1000 genomes]
rs9306111	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9808722	0.85[ASN][1000 genomes]
rs9974195	0.80[EUR][1000 genomes]
rs9979457	0.90[ASN][1000 genomes]
rs9980129	0.84[ASN][1000 genomes]
rs9982138	0.84[ASN][1000 genomes]
rs9983049	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9984726	0.82[AMR][1000 genomes];0.81[EUR][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:24 , 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	chr21:46046600-46047600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr21:46046600-46047800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr21:46046600-46048600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr21:46046600-46049000	Weak transcription	Left Ventricle	heart
14	chr21:46046600-46049200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr21:46047200-46047800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
16	chr21:46047200-46049000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:46047400-46047600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr21:46047400-46047800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr21:46047400-46048000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:46047400-46048000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr21:46047400-46048000	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr21:46047400-46048600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr21:46047400-46049200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:46047400-46049200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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