Variant report

Variant	rs1656374
Chromosome Location	chr3:158283060-158283061
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	chr3:158258697..158261392-chr3:158281959..158283679,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LXN-3	chr3:158282151-158283758	ucscGeneNc_uc003fbc_2
2	lnc-MLF1-1	chr3:158282277-158283401	l_2517_chr3:158282276-158289024_testes

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11719037	0.88[ASN][1000 genomes]
rs12637678	0.94[ASN][1000 genomes]
rs12638438	0.86[ASN][1000 genomes]
rs1435641	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1435642	0.89[AFR][1000 genomes]
rs1595029	0.93[ASN][1000 genomes]
rs1620229	0.90[AFR][1000 genomes]
rs1656365	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1656366	0.94[ASN][1000 genomes]
rs1656373	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1656376	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1656377	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1714507	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1714516	0.90[AFR][1000 genomes]
rs1714518	0.88[ASN][1000 genomes]
rs1714524	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17629390	0.81[AFR][1000 genomes]
rs17629414	0.81[AFR][1000 genomes]
rs2115943	0.81[AFR][1000 genomes]
rs2248924	0.84[AFR][1000 genomes]
rs2276773	0.81[AFR][1000 genomes]
rs2566344	0.84[AFR][1000 genomes]
rs2573179	0.88[AFR][1000 genomes]
rs2731112	0.90[AFR][1000 genomes]
rs2731118	0.88[AFR][1000 genomes]
rs2731120	0.90[AFR][1000 genomes]
rs2731122	0.90[AFR][1000 genomes]
rs4680445	0.81[AFR][1000 genomes]
rs62287933	0.81[AFR][1000 genomes]
rs6441206	0.89[ASN][1000 genomes]
rs6762860	0.88[ASN][1000 genomes]
rs6787172	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6795376	0.88[ASN][1000 genomes]
rs7613814	0.84[AFR][1000 genomes]
rs7620927	0.89[ASN][1000 genomes]
rs7623732	0.87[ASN][1000 genomes]
rs7631310	0.81[AFR][1000 genomes]
rs7639678	0.93[ASN][1000 genomes]
rs7648618	0.87[ASN][1000 genomes]
rs9810887	0.87[ASN][1000 genomes]
rs9819134	0.88[ASN][1000 genomes]
rs9819631	0.81[AFR][1000 genomes]
rs9844502	0.81[AFR][1000 genomes]
rs9848908	0.81[AFR][1000 genomes]
rs9857535	0.88[ASN][1000 genomes]
rs9858318	0.87[ASN][1000 genomes]
rs9859129	0.87[ASN][1000 genomes]
rs9864508	0.81[AFR][1000 genomes]
rs9883657	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1014381	chr3:158070451-158350118	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv877690	chr3:158184263-158296916	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2763312	chr3:158193512-158420588	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv916167	chr3:158240540-158320581	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv877691	chr3:158245883-158359667	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1013242	chr3:158275578-158305894	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1013112	chr3:158280085-158301728	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1001944	chr3:158280085-158305210	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv999408	chr3:158280085-158316431	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1656374	RP11-538P18.2	cis	Artery Tibial	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158279400-158286200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:158282400-158285000	Weak transcription	Fetal Heart	heart

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