Variant report

Variant	rs73022762
Chromosome Location	chr3:158290305-158290306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr3:158288657-158290566	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr3:158289720-158290582	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr3:158288648-158290616	H1-hESC	embryonic stem cell:	n/a	chr3:158288898-158288907 chr3:158288900-158288909
4	MAX	chr3:158289774-158290579	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr3:158289647-158290580	K562	blood:	n/a	n/a
6	MAX	chr3:158289726-158290476	K562	blood:	n/a	n/a
7	POLR2A	chr3:158289957-158290341	K562	blood:	n/a	n/a
8	E2F6	chr3:158288630-158291153	K562	blood:	n/a	chr3:158288898-158288907 chr3:158288900-158288909
9	POLR2A	chr3:158288629-158290805	K562	blood:	n/a	n/a
10	ZNF263	chr3:158289935-158290802	HEK293-T-REx	kidney:	n/a	chr3:158290260-158290281 chr3:158290648-158290657 chr3:158290303-158290324

No.	Distal block	Cell Line	Cell type
1	chr3:158257580..158259389-chr3:158289106..158290845,2	K562	blood:
2	chr3:158284750..158291147-chr3:158359832..158364955,8	K562	blood:
3	chr3:158257580..158259170-chr3:158289106..158290622,2	K562	blood:
4	chr3:158289477..158292573-chr3:158361739..158363921,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSRC1-1	chr3:158290246-158290605	l_2518_chr3:158290245-158301620_heart

Variant related genes	Relation type
ENSG00000243150	TF binding region
ENSG00000168827	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10154981	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10154986	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1038885	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10513527	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12106885	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12107742	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12486595	0.91[EUR][1000 genomes]
rs12487004	0.84[EUR][1000 genomes]
rs12638363	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13315529	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13318109	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1435638	0.87[EUR][1000 genomes]
rs1435639	0.87[EUR][1000 genomes]
rs16829072	0.89[EUR][1000 genomes]
rs16829079	0.89[EUR][1000 genomes]
rs16829116	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829135	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16829273	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16829283	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16847130	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16847135	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17630223	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17630394	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17630785	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17631016	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17631078	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1864502	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2082838	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2115942	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2291594	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2363657	0.89[EUR][1000 genomes]
rs2364273	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28856044	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3806642	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817373	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272617	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4368546	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522814	0.85[EUR][1000 genomes]
rs56321207	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56973279	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58034569	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58878998	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59492803	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59502510	0.89[EUR][1000 genomes]
rs59527167	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59602208	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59973861	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61107068	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61292339	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6779054	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6792976	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6795710	0.91[EUR][1000 genomes]
rs6797871	0.90[EUR][1000 genomes]
rs6808551	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73022714	0.89[EUR][1000 genomes]
rs73022726	0.89[EUR][1000 genomes]
rs73022742	0.93[EUR][1000 genomes]
rs73022770	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73022798	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73024783	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73024790	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73028934	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73030851	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7638518	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7638606	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs939116	0.84[EUR][1000 genomes]
rs9830994	0.87[EUR][1000 genomes]
rs9849437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9872682	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9881679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	esv3327979	chr3:158288708-158291006	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73022762	MLF1	cis	Muscle Skeletal	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158288200-158290600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:158288400-158290400	Active TSS	Fetal Kidney	kidney
3	chr3:158288400-158292000	Active TSS	Right Atrium	heart
4	chr3:158288600-158290600	Active TSS	Left Ventricle	heart
5	chr3:158288800-158290400	Active TSS	Colon Smooth Muscle	Colon
6	chr3:158288800-158291000	Active TSS	Brain Anterior Caudate	brain
7	chr3:158288800-158291000	Active TSS	Fetal Heart	heart
8	chr3:158289400-158291000	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr3:158289600-158290400	Weak transcription	K562	blood
10	chr3:158289600-158290600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr3:158289600-158290600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:158289600-158290600	Weak transcription	Psoas Muscle	Psoas
13	chr3:158289600-158290800	Enhancers	Fetal Brain Male	brain
14	chr3:158289600-158290800	Enhancers	Fetal Muscle Trunk	muscle
15	chr3:158289600-158290800	Enhancers	Ovary	ovary
16	chr3:158289600-158291000	Enhancers	Esophagus	oesophagus
17	chr3:158289800-158290400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:158289800-158290400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr3:158289800-158290600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:158289800-158290800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:158289800-158291000	Weak transcription	HSMM	muscle
22	chr3:158290000-158290400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:158290000-158290400	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr3:158290000-158290400	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr3:158290000-158290400	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr3:158290000-158290600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr3:158290000-158290800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:158290000-158290800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr3:158290000-158290800	Enhancers	Lung	lung
30	chr3:158290200-158290400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:158290200-158290400	Enhancers	Fetal Lung	lung
32	chr3:158290200-158290600	Enhancers	Fetal Stomach	stomach
33	chr3:158290200-158290600	Flanking Active TSS	Right Ventricle	heart
34	chr3:158290200-158290800	Enhancers	Brain Hippocampus Middle	brain
35	chr3:158290200-158291000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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