Variant report

Variant	rs8127197
Chromosome Location	chr21:17045892-17045893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17044032..17047282-chr21:17048018..17052321,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10482874	1.00[EUR][1000 genomes]
rs11911651	1.00[EUR][1000 genomes]
rs1474736	1.00[EUR][1000 genomes]
rs16988288	1.00[EUR][1000 genomes]
rs2225401	1.00[EUR][1000 genomes]
rs2823401	1.00[EUR][1000 genomes]
rs2823409	1.00[EUR][1000 genomes]
rs2823410	1.00[EUR][1000 genomes]
rs2823437	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2823439	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823442	1.00[EUR][1000 genomes]
rs2823448	1.00[EUR][1000 genomes]
rs2823450	1.00[EUR][1000 genomes]
rs28372331	1.00[EUR][1000 genomes]
rs28465005	1.00[EUR][1000 genomes]
rs28510398	1.00[EUR][1000 genomes]
rs28542389	1.00[EUR][1000 genomes]
rs28542431	1.00[EUR][1000 genomes]
rs28627638	1.00[EUR][1000 genomes]
rs57348380	1.00[EUR][1000 genomes]
rs58963354	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61348938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6517555	1.00[EUR][1000 genomes]
rs7281995	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7282463	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73355441	1.00[EUR][1000 genomes]
rs73360907	1.00[EUR][1000 genomes]
rs73360910	1.00[EUR][1000 genomes]
rs73360912	1.00[EUR][1000 genomes]
rs73360916	1.00[EUR][1000 genomes]
rs7364033	1.00[EUR][1000 genomes]
rs7510266	1.00[EUR][1000 genomes]
rs8126822	1.00[EUR][1000 genomes]
rs8129950	1.00[EUR][1000 genomes]
rs8130259	1.00[EUR][1000 genomes]
rs8131104	1.00[EUR][1000 genomes]
rs995121	1.00[EUR][1000 genomes]
rs9974439	1.00[EUR][1000 genomes]
rs9974570	1.00[EUR][1000 genomes]
rs9977583	1.00[EUR][1000 genomes]
rs9977671	1.00[EUR][1000 genomes]
rs9978819	1.00[EUR][1000 genomes]
rs9979887	1.00[EUR][1000 genomes]
rs9980143	1.00[EUR][1000 genomes]
rs9981034	1.00[EUR][1000 genomes]
rs9981661	1.00[EUR][1000 genomes]
rs9982635	1.00[EUR][1000 genomes]
rs9983023	1.00[EUR][1000 genomes]
rs9983852	1.00[EUR][1000 genomes]
rs9983961	1.00[EUR][1000 genomes]
rs9984675	1.00[EUR][1000 genomes]
rs9984939	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2758530	chr21:16912646-17096678	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2758810	chr21:16912646-17096678	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	esv2830057	chr21:16960590-17113148	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1056833	chr21:17018524-17086705	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv1844987	chr21:17033833-17088977	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17039200-17049800	Weak transcription	Esophagus	oesophagus
2	chr21:17040600-17048200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:17041800-17054600	Weak transcription	NHLF	lung
4	chr21:17042400-17054400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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