Variant report

Variant	rs4683638
Chromosome Location	chr3:141588962-141588963
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	chr3:141584573..141592119-chr3:141592759..141599123,14	K562	blood:

Variant related genes	Relation type
ENSG00000069849	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10755098	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10935439	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10935440	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10935441	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10935442	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10935443	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10935446	0.83[AFR][1000 genomes]
rs10935447	0.83[AFR][1000 genomes]
rs11539489	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11706195	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11707087	0.83[AFR][1000 genomes]
rs11707100	0.83[AFR][1000 genomes]
rs11707427	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710245	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11710724	0.83[AFR][1000 genomes]
rs11711748	0.83[AFR][1000 genomes]
rs11713023	0.83[AFR][1000 genomes]
rs11721024	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12486398	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12487977	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12487983	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12490893	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12494971	0.83[AFR][1000 genomes]
rs12497443	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1560411	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16851865	0.83[AFR][1000 genomes]
rs16851892	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2115935	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288634	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2288635	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2288636	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2861382	0.99[ASN][1000 genomes]
rs34071952	0.82[ASN][1000 genomes]
rs36038301	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792410	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3792411	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3804772	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3804773	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3828398	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4683412	0.83[AFR][1000 genomes]
rs4683639	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683640	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683641	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683642	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683643	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683644	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683646	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4683647	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4683649	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4683651	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs55704642	0.83[AFR][1000 genomes]
rs55871459	0.83[AFR][1000 genomes]
rs55945175	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56664943	0.83[AFR][1000 genomes]
rs58266560	0.83[AFR][1000 genomes]
rs59115009	0.83[AFR][1000 genomes]
rs59122181	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs745966	0.83[AFR][1000 genomes]
rs7616903	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3333253	chr3:141585303-141602936	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 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	chr3:141588600-141589600	Enhancers	HSMMtube	muscle
2	chr3:141588600-141589600	Enhancers	HUVEC	blood vessel
3	chr3:141588600-141593800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:141588800-141589200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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