Variant report

Variant	rs2836924
Chromosome Location	chr21:40525639-40525640
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	chr21:40524814..40527539-chr21:40530496..40533251,3	K562	blood:

Extended variants
information (count: 131 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1041440	0.80[AMR][1000 genomes]
rs1065242	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11910151	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11911112	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11911149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11911822	0.90[YRI][hapmap]
rs12481860	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12482156	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12482181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12482857	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12483216	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12710453	0.84[EUR][1000 genomes]
rs13047550	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13048178	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13049280	0.96[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs13052882	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13339986	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs13625	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs14194	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541102	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1571709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984022	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2026265	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2026267	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs2037925	0.86[YRI][hapmap]
rs2150411	0.90[YRI][hapmap]
rs2150415	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2234543	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2249651	1.00[JPT][hapmap]
rs2735306	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs2776307	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs2776309	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs2836920	0.84[CEU][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2836921	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836923	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836927	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836928	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836930	0.90[YRI][hapmap]
rs2836931	0.90[YRI][hapmap]
rs2836932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836933	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2836938	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2836944	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2836955	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs2836957	0.96[CEU][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes]
rs2836959	0.86[YRI][hapmap]
rs2836964	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs2836965	0.96[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs2836967	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs2836968	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs2836969	0.90[YRI][hapmap]
rs2836971	0.90[YRI][hapmap]
rs2836972	0.80[AMR][1000 genomes]
rs2836974	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs2836975	0.90[YRI][hapmap]
rs2836980	0.86[YRI][hapmap]
rs2836983	0.87[YRI][hapmap]
rs2836985	0.86[YRI][hapmap]
rs2836988	0.86[YRI][hapmap]
rs34035316	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34176878	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34294410	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34394827	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34478864	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34592564	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34978594	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35064900	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35386515	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35391055	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35571600	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35774464	0.85[EUR][1000 genomes]
rs36113648	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs371625	0.82[AFR][1000 genomes]
rs377098	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs3945	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs414850	0.82[AFR][1000 genomes]
rs418298	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs418359	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs419469	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs429955	0.82[AFR][1000 genomes]
rs442972	0.82[AFR][1000 genomes]
rs452377	0.82[AFR][1000 genomes]
rs4817996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818001	0.90[YRI][hapmap]
rs4818015	0.90[YRI][hapmap]
rs56049536	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56112725	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56306759	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6517513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517514	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517521	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517522	1.00[YRI][hapmap]
rs6517523	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6517526	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6517527	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6517533	0.80[AMR][1000 genomes]
rs6517538	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs68090597	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71184665	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276774	0.86[YRI][hapmap]
rs7280375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7282604	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs7283516	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs7283569	0.80[AMR][1000 genomes]
rs73221174	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73221193	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7354783	0.80[AMR][1000 genomes]
rs8127087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128102	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8128191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128734	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8129355	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8129416	0.80[AMR][1000 genomes]
rs8130556	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8130984	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs8131965	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8132143	0.90[YRI][hapmap]
rs8132285	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs8132295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8132333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8132419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8132424	0.90[YRI][hapmap]
rs8132568	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8133146	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9941894	0.96[CEU][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2836924	PSMG1	cis	Nerve Tibial	GTEx
rs2836924	PSMG1	cis	Skin Sun Exposed Lower leg	GTEx
rs2836924	DSCR2	cis	normal skin	skin_eQTL
rs2836924	PSMG1	cis	Muscle Skeletal	GTEx
rs2836924	PSMG1	cis	Esophagus Mucosa	GTEx
rs2836924	PSMG1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40525000-40525800	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr21:40525400-40526000	Enhancers	Fetal Muscle Leg	muscle
3	chr21:40525600-40526000	Enhancers	Hela-S3	cervix
4	chr21:40525600-40526000	Enhancers	HSMMtube	muscle

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