Variant report

Variant	rs35386515
Chromosome Location	chr21:40532047-40532048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40529860..40532688-chr21:40545443..40547905,2	K562	blood:
2	chr21:40138076..40140463-chr21:40532005..40534792,2	MCF-7	breast:
3	21:40526994-40534295..21:40748850-40752541	K562	blood:
4	chr21:40530353..40532192-chr21:40535723..40538696,2	MCF-7	breast:
5	chr21:40524814..40527539-chr21:40530496..40533251,3	K562	blood:
6	chr21:40530945..40533694-chr21:40534297..40536978,4	K562	blood:

Variant related genes	Relation type
ENSG00000182093	Chromatin interaction
ENSG00000227406	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs1041440	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10427502	0.83[AMR][1000 genomes]
rs1065242	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11910151	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11911112	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11911149	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481860	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12482156	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12482181	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12482857	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12483216	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12710453	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13047550	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13048178	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13049280	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13052882	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13339986	0.88[EUR][1000 genomes]
rs13625	0.84[AMR][1000 genomes]
rs14194	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541102	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1571709	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984022	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2026265	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2150415	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2234543	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2410106	0.80[AMR][1000 genomes]
rs2836920	0.80[ASN][1000 genomes]
rs2836921	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836923	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836924	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836925	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836927	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836928	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836929	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836932	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836933	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2836938	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2836944	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2836953	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2836955	0.82[EUR][1000 genomes]
rs2836957	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2836964	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2836965	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2836967	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2836968	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2836972	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2836973	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2836974	0.80[AMR][1000 genomes]
rs2836977	0.84[AMR][1000 genomes]
rs34035316	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34176878	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34294410	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34394827	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34433511	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34478864	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34592564	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34672724	0.82[AMR][1000 genomes]
rs34978594	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35064900	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35068861	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35391055	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35560196	0.82[AMR][1000 genomes]
rs35571600	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35774464	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36113648	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3945	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4817996	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55836299	0.84[AMR][1000 genomes]
rs56049536	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56112725	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56306759	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6517513	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517514	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517519	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517521	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517523	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6517526	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6517527	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6517533	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6517538	0.83[AMR][1000 genomes]
rs66465538	0.81[EUR][1000 genomes]
rs68004583	0.83[AMR][1000 genomes]
rs68090597	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71184665	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7280375	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7282624	0.84[AMR][1000 genomes]
rs7283569	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73221174	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73221193	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7354783	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8127087	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128026	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128102	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8128191	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128620	0.84[AMR][1000 genomes]
rs8128734	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8128894	0.82[AMR][1000 genomes]
rs8129355	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8129416	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8130556	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8130984	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8131965	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8132295	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8132333	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8132419	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8132568	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8133146	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8134733	0.80[AMR][1000 genomes]
rs9941894	0.81[EUR][1000 genomes]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35386515	PSMG1	cis	Muscle Skeletal	GTEx
rs35386515	PSMG1	cis	Skin Sun Exposed Lower leg	GTEx
rs35386515	PSMG1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40531000-40532200	Enhancers	HSMMtube	muscle
2	chr21:40531000-40532400	Enhancers	Fetal Muscle Leg	muscle
3	chr21:40531000-40533400	Enhancers	HepG2	liver
4	chr21:40531200-40532200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr21:40531400-40532200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr21:40531600-40532200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:40531600-40532200	Enhancers	Psoas Muscle	Psoas
8	chr21:40531600-40532600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr21:40531600-40532800	Enhancers	Fetal Muscle Trunk	muscle
10	chr21:40532000-40533000	Enhancers	Spleen	Spleen

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