Variant report

Variant	rs58034569
Chromosome Location	chr3:158287689-158287690
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:158284750..158291147-chr3:158359832..158364955,8	K562	blood:

Variant related genes	Relation type
ENSG00000168827	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10154981	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10154986	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1038885	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10513527	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12106885	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12107742	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12486595	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12487004	0.84[EUR][1000 genomes]
rs12487933	0.89[AMR][1000 genomes]
rs12638363	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13315529	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13318109	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1435638	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1435639	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16829072	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16829079	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16829116	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829135	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16829273	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16829283	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16847130	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16847135	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17630223	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17630394	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17630785	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17631016	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17631078	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1864502	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2082838	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2115942	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2291594	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2363654	0.89[AMR][1000 genomes]
rs2363657	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2364273	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28669117	0.89[AMR][1000 genomes]
rs28856044	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3806642	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817373	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272617	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4368546	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522814	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5025785	0.89[AMR][1000 genomes]
rs56321207	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56973279	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58878998	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59112782	0.89[AMR][1000 genomes]
rs59492803	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59502510	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59527167	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59602208	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59973861	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61107068	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61292339	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67074371	0.89[AMR][1000 genomes]
rs6762774	0.82[AMR][1000 genomes]
rs6769314	0.89[AMR][1000 genomes]
rs6770005	0.89[AMR][1000 genomes]
rs6779054	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6792976	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6795710	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6797871	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6804401	0.89[AMR][1000 genomes]
rs6808551	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73020715	0.89[AMR][1000 genomes]
rs73020720	0.89[AMR][1000 genomes]
rs73022714	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73022726	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73022742	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73022762	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73022770	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73022798	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73024783	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73024790	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73028934	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73030851	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73172118	0.82[AMR][1000 genomes]
rs73172127	0.83[AMR][1000 genomes]
rs7619886	0.89[AMR][1000 genomes]
rs7638518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7638606	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs939115	0.89[AMR][1000 genomes]
rs939116	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9681065	0.89[AMR][1000 genomes]
rs9811282	0.89[AMR][1000 genomes]
rs9812307	0.84[AMR][1000 genomes]
rs9815348	0.89[AMR][1000 genomes]
rs9819130	0.89[AMR][1000 genomes]
rs9830994	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9849437	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9849688	0.89[AMR][1000 genomes]
rs9854620	0.89[AMR][1000 genomes]
rs9858498	0.89[AMR][1000 genomes]
rs9872682	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9881679	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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
12	esv3462764	chr3:158287372-158288474	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
13	esv3462762	chr3:158287436-158288436	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	esv3462761	chr3:158287456-158288406	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
15	esv3462765	chr3:158287456-158288406	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
16	esv18632	chr3:158287531-158288286	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs58034569	MLF1	cis	Muscle Skeletal	GTEx
rs58034569	GFM1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158284400-158288000	Weak transcription	Brain Angular Gyrus	brain
2	chr3:158284400-158288400	Weak transcription	NHEK	skin
3	chr3:158284600-158288400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:158284600-158288400	Weak transcription	Psoas Muscle	Psoas
5	chr3:158285000-158288400	Enhancers	Fetal Heart	heart
6	chr3:158286600-158288400	Weak transcription	HUVEC	blood vessel
7	chr3:158286800-158287800	Enhancers	Right Ventricle	heart
8	chr3:158287000-158288200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr3:158287200-158288200	Weak transcription	A549	lung
10	chr3:158287600-158287800	Enhancers	Fetal Muscle Trunk	muscle
11	chr3:158287600-158287800	Enhancers	Left Ventricle	heart
12	chr3:158287600-158288400	Enhancers	Fetal Muscle Leg	muscle
13	chr3:158287600-158288400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr3:158287600-158288400	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links