Variant report

Variant	rs8130670
Chromosome Location	chr21:41132622-41132623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:41128004..41130584-chr21:41132045..41133967,2	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10470189	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1077589	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1077590	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1077591	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1235466	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1235468	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1235475	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1235476	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1235478	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12482872	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12483010	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12483573	0.82[ASN][1000 genomes]
rs12627581	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1571711	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1614870	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1734857	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1734858	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1734859	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1735143	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1735145	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1735146	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1735147	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1735149	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1735151	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1888493	0.81[ASN][1000 genomes]
rs2205202	0.82[ASN][1000 genomes]
rs2253741	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2253748	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2253751	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2253752	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2266513	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2410179	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2410180	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2410181	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2837149	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837150	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837151	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2837153	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2837154	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837155	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2837157	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2837158	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837159	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837160	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2837161	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837162	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837163	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2837164	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837165	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837166	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2837168	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2837169	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2837170	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2837171	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2837172	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2837173	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2837184	0.88[ASN][1000 genomes]
rs2898385	0.89[ASN][1000 genomes]
rs2974990	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2974991	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2974992	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2989331	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs388152	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs388332	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs403249	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs412661	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs413515	0.82[EUR][1000 genomes]
rs415340	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs415794	0.81[EUR][1000 genomes]
rs418566	0.81[EUR][1000 genomes]
rs418823	0.81[EUR][1000 genomes]
rs421549	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs424447	0.84[AFR][1000 genomes]
rs424471	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs425320	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs431202	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs431359	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs431735	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs431767	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs432683	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs443468	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4816645	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4816648	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4816649	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4816650	0.88[ASN][1000 genomes]
rs4816651	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4816654	0.83[AFR][1000 genomes]
rs4816655	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4818083	0.92[ASN][1000 genomes]
rs4818084	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818085	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4818086	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4995787	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6517561	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6517562	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6517565	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6517567	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71316138	0.88[ASN][1000 genomes]
rs7275687	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7278720	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7278858	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7282199	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7282336	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7282400	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7282429	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7282589	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7282623	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs741867	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs744568	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9305678	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9753824	0.82[ASN][1000 genomes]
rs9753841	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9753866	0.85[ASN][1000 genomes]
rs9980150	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv834099	chr21:41076873-41206030	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41104200-41138400	Weak transcription	Pancreas	Pancrea
2	chr21:41110000-41148400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:41132400-41133800	Weak transcription	Placenta	Placenta

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