Variant report

Variant	rs9979910
Chromosome Location	chr21:16893945-16893946
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:31)

rs_ID	r²[population]
rs11911379	0.89[EUR][1000 genomes]
rs11911634	0.81[EUR][1000 genomes]
rs11911757	0.89[EUR][1000 genomes]
rs2823320	0.93[EUR][1000 genomes]
rs2823321	0.93[EUR][1000 genomes]
rs2823322	0.92[EUR][1000 genomes]
rs55788196	0.90[EUR][1000 genomes]
rs55817400	0.93[EUR][1000 genomes]
rs55908998	0.91[EUR][1000 genomes]
rs55936117	0.92[EUR][1000 genomes]
rs56174393	0.92[EUR][1000 genomes]
rs57843759	0.89[EUR][1000 genomes]
rs59487397	0.89[EUR][1000 genomes]
rs60282418	0.89[EUR][1000 genomes]
rs60944484	0.92[EUR][1000 genomes]
rs62217401	0.90[EUR][1000 genomes]
rs62217403	0.92[EUR][1000 genomes]
rs62217409	0.92[EUR][1000 genomes]
rs62217411	0.92[EUR][1000 genomes]
rs6517465	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6517467	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6650846	0.91[EUR][1000 genomes]
rs7279689	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7279999	0.91[EUR][1000 genomes]
rs7282872	0.91[EUR][1000 genomes]
rs7283918	0.91[EUR][1000 genomes]
rs73187667	0.90[EUR][1000 genomes]
rs73892642	0.91[EUR][1000 genomes]
rs8127279	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9305646	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9984697	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834049	chr21:16717421-16905300	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1064621	chr21:16881027-16937290	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16892800-16894000	Enhancers	Primary T cells from cord blood	blood
2	chr21:16892800-16894000	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr21:16892800-16894200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr21:16892800-16894200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr21:16893000-16894000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr21:16893000-16894000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr21:16893000-16894000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr21:16893000-16894200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr21:16893000-16894200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr21:16893000-16894200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr21:16893200-16894600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr21:16893400-16894000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:16893400-16894800	Enhancers	Placenta	Placenta
14	chr21:16893400-16894800	ZNF genes & repeats	Dnd41	blood
15	chr21:16893600-16894000	Enhancers	HMEC	breast
16	chr21:16893600-16894400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:16893600-16894400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr21:16893600-16894400	ZNF genes & repeats	Fetal Thymus	thymus
19	chr21:16893600-16894800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:16893800-16894200	Active TSS	HepG2	liver
21	chr21:16893800-16894400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr21:16893800-16894400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:16893800-16897400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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