Variant report

Variant	rs11911477
Chromosome Location	chr21:47157936-47157937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11908989	1.00[AMR][1000 genomes]
rs11909079	1.00[AMR][1000 genomes]
rs11909787	1.00[AMR][1000 genomes]
rs11909949	1.00[AMR][1000 genomes]
rs11910200	1.00[AMR][1000 genomes]
rs11910469	1.00[AMR][1000 genomes]
rs11910564	1.00[AMR][1000 genomes]
rs11910565	1.00[AMR][1000 genomes]
rs11910741	1.00[AMR][1000 genomes]
rs11911016	1.00[AMR][1000 genomes]
rs11911051	1.00[AMR][1000 genomes]
rs11911103	1.00[AMR][1000 genomes]
rs11911110	1.00[AMR][1000 genomes]
rs11911278	1.00[AMR][1000 genomes]
rs11911528	1.00[AMR][1000 genomes]
rs11911547	1.00[AMR][1000 genomes]
rs11911599	1.00[AMR][1000 genomes]
rs11911859	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28684590	1.00[AMR][1000 genomes]
rs2877093	1.00[YRI][hapmap]
rs34087732	1.00[AMR][1000 genomes]
rs57812778	1.00[AMR][1000 genomes]
rs58160661	1.00[AMR][1000 genomes]
rs58476668	1.00[AMR][1000 genomes]
rs58587005	1.00[AMR][1000 genomes]
rs59852288	1.00[AMR][1000 genomes]
rs60300060	1.00[AMR][1000 genomes]
rs61152109	1.00[AMR][1000 genomes]
rs7275801	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7275803	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7278814	1.00[AMR][1000 genomes]
rs73380618	1.00[AMR][1000 genomes]
rs73380620	1.00[AMR][1000 genomes]
rs73380624	1.00[AMR][1000 genomes]
rs73380625	1.00[AMR][1000 genomes]
rs73380629	1.00[AMR][1000 genomes]
rs73380634	1.00[AMR][1000 genomes]
rs73380636	1.00[AMR][1000 genomes]
rs73380639	1.00[AMR][1000 genomes]
rs73380641	1.00[AMR][1000 genomes]
rs73380652	1.00[AMR][1000 genomes]
rs73380656	1.00[AMR][1000 genomes]
rs73380658	1.00[AMR][1000 genomes]
rs73380665	1.00[AMR][1000 genomes]
rs73380670	1.00[AMR][1000 genomes]
rs73380672	1.00[AMR][1000 genomes]
rs73380673	1.00[AMR][1000 genomes]
rs73380682	1.00[AMR][1000 genomes]
rs73380688	1.00[AMR][1000 genomes]
rs73380693	1.00[AMR][1000 genomes]
rs8127953	1.00[AMR][1000 genomes]
rs8128525	1.00[AMR][1000 genomes]
rs8129516	1.00[AMR][1000 genomes]
rs8133670	1.00[AMR][1000 genomes]
rs9984190	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv1063957	chr21:47090475-47168291	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
9	nsv1062702	chr21:47095762-47169369	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
10	nsv544493	chr21:47095762-47169369	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47135600-47165000	Weak transcription	Primary T cells from cord blood	blood
2	chr21:47144200-47167600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:47146600-47159600	Weak transcription	Spleen	Spleen
4	chr21:47146600-47160000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:47151800-47164800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:47152600-47160400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:47153200-47165400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:47154400-47158000	Strong transcription	Thymus	Thymus
9	chr21:47154400-47160000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:47155200-47158600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr21:47156600-47168000	Weak transcription	Brain Angular Gyrus	brain
12	chr21:47156800-47164800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr21:47157000-47158000	Enhancers	Esophagus	oesophagus
14	chr21:47157000-47168200	Weak transcription	Brain Hippocampus Middle	brain
15	chr21:47157600-47159200	Weak transcription	Fetal Thymus	thymus
16	chr21:47157600-47165000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:47157800-47159600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:47157800-47160000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr21:47157800-47160800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr21:47157800-47167400	Weak transcription	HSMMtube	muscle

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