Variant report

Variant	rs7638518
Chromosome Location	chr3:158286742-158286743
allele	A/C
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	JUND	chr3:158286483-158287069	SK-N-SH	brain:	n/a	chr3:158286769-158286777 chr3:158286767-158286779 chr3:158286767-158286778 chr3:158286769-158286776 chr3:158286768-158286777 chr3:158286797-158286808 chr3:158286769-158286778
2	JUND	chr3:158286594-158287026	K562	blood:	n/a	chr3:158286769-158286777 chr3:158286767-158286779 chr3:158286767-158286778 chr3:158286769-158286776 chr3:158286768-158286777 chr3:158286797-158286808 chr3:158286769-158286778
3	FOS	chr3:158286590-158286994	MCF10A-Er-Src	breast:	n/a	chr3:158286769-158286777 chr3:158286767-158286779 chr3:158286769-158286776 chr3:158286768-158286777 chr3:158286797-158286808 chr3:158286769-158286778 chr3:158286767-158286778
4	PBX3	chr3:158286511-158286981	SK-N-SH	brain:	n/a	n/a
5	JUND	chr3:158286588-158286952	Hela-S3	cervix:	n/a	chr3:158286769-158286777 chr3:158286767-158286779 chr3:158286767-158286778 chr3:158286769-158286776 chr3:158286768-158286777 chr3:158286797-158286808 chr3:158286769-158286778
6	FOS	chr3:158286594-158286992	MCF10A-Er-Src	breast:	n/a	chr3:158286769-158286777 chr3:158286767-158286779 chr3:158286769-158286776 chr3:158286768-158286777 chr3:158286797-158286808 chr3:158286769-158286778 chr3:158286767-158286778
7	MAFK	chr3:158286729-158286776	HepG2	liver:	n/a	n/a
8	FOSL2	chr3:158286538-158287085	SK-N-SH	brain:	n/a	chr3:158286769-158286777 chr3:158286767-158286779 chr3:158286769-158286776 chr3:158286768-158286777 chr3:158286797-158286808 chr3:158286769-158286778
9	JUND	chr3:158286580-158287029	HepG2	liver:	n/a	chr3:158286769-158286777 chr3:158286767-158286779 chr3:158286767-158286778 chr3:158286769-158286776 chr3:158286768-158286777 chr3:158286797-158286808 chr3:158286769-158286778
10	MAFK	chr3:158286645-158286868	HepG2	liver:	n/a	chr3:158286770-158286779 chr3:158286769-158286779
11	E2F4	chr3:158286565-158286940	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr3:158286585-158286998	MCF10A-Er-Src	breast:	n/a	chr3:158286769-158286777 chr3:158286767-158286779 chr3:158286769-158286776 chr3:158286768-158286777 chr3:158286797-158286808 chr3:158286769-158286778 chr3:158286767-158286778
13	JUN	chr3:158286617-158286945	HepG2	liver:	n/a	chr3:158286769-158286777 chr3:158286767-158286779 chr3:158286769-158286776 chr3:158286768-158286777 chr3:158286797-158286808 chr3:158286769-158286778
14	JUN	chr3:158286590-158286984	HUVEC	blood vessel:	n/a	chr3:158286769-158286777 chr3:158286767-158286779 chr3:158286769-158286776 chr3:158286768-158286777 chr3:158286797-158286808 chr3:158286769-158286778
15	PBX3	chr3:158286493-158287008	SK-N-SH	brain:	n/a	n/a
16	JUND	chr3:158286404-158287226	SK-N-SH	brain:	n/a	chr3:158286769-158286777 chr3:158286767-158286779 chr3:158286767-158286778 chr3:158286769-158286776 chr3:158286768-158286777 chr3:158286797-158286808 chr3:158286769-158286778
17	FOS	chr3:158286528-158286979	HUVEC	blood vessel:	n/a	chr3:158286769-158286777 chr3:158286767-158286779 chr3:158286769-158286776 chr3:158286768-158286777 chr3:158286797-158286808 chr3:158286769-158286778 chr3:158286767-158286778
18	JUND	chr3:158286398-158286927	H1-hESC	embryonic stem cell:	n/a	chr3:158286769-158286777 chr3:158286767-158286779 chr3:158286767-158286778 chr3:158286769-158286776 chr3:158286768-158286777 chr3:158286797-158286808 chr3:158286769-158286778
19	FOS	chr3:158286590-158286948	MCF10A-Er-Src	breast:	n/a	chr3:158286769-158286777 chr3:158286767-158286779 chr3:158286769-158286776 chr3:158286768-158286777 chr3:158286797-158286808 chr3:158286769-158286778 chr3:158286767-158286778
20	FOSL2	chr3:158286488-158286936	A549	lung:	n/a	chr3:158286769-158286777 chr3:158286767-158286779 chr3:158286769-158286776 chr3:158286768-158286777 chr3:158286797-158286808 chr3:158286769-158286778

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

Variant related genes	Relation type
MLF1	TF binding region
ENSG00000168827	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10154981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10154986	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1038885	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10513527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12106885	1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12107742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12486595	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12487004	0.84[EUR][1000 genomes]
rs12487933	0.89[AMR][1000 genomes]
rs12638363	0.88[EUR][1000 genomes]
rs1320239	0.91[TSI][hapmap]
rs13315529	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13318109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1435638	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1435639	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16829072	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16829079	0.84[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16829116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16829118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.96[TSI][hapmap]
rs16829135	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16829273	0.93[CEU][hapmap];1.00[CHB][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs16829283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs16847130	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16847135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17630223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs17630394	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs17630785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs17631016	0.88[EUR][1000 genomes]
rs17631078	0.88[EUR][1000 genomes]
rs1864502	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2082838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2115942	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2291594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs2363654	0.89[AMR][1000 genomes]
rs2363657	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2364273	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28669117	0.89[AMR][1000 genomes]
rs28856044	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3806642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs3817373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41272617	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4368546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4522814	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5025785	0.89[AMR][1000 genomes]
rs56321207	0.88[EUR][1000 genomes]
rs56973279	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58034569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58878998	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59112782	0.89[AMR][1000 genomes]
rs59492803	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59502510	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59527167	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59602208	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59973861	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61107068	0.88[EUR][1000 genomes]
rs61292339	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67074371	0.89[AMR][1000 genomes]
rs6762774	0.82[AMR][1000 genomes]
rs6769314	0.88[TSI][hapmap];0.89[AMR][1000 genomes]
rs6770005	0.89[AMR][1000 genomes]
rs6779054	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6788069	0.81[GIH][hapmap]
rs6792976	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6795710	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6797871	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6804401	0.89[AMR][1000 genomes]
rs6808551	0.84[EUR][1000 genomes]
rs73020715	0.89[AMR][1000 genomes]
rs73020720	0.89[AMR][1000 genomes]
rs73022714	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73022726	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73022742	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73022762	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73022770	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73022798	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73024783	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73024790	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73028934	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73030851	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73172118	0.82[AMR][1000 genomes]
rs73172127	0.83[AMR][1000 genomes]
rs7619886	0.89[AMR][1000 genomes]
rs7638606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7646881	0.81[GIH][hapmap]
rs7646987	0.81[GIH][hapmap]
rs939115	0.89[AMR][1000 genomes]
rs939116	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9681065	0.88[TSI][hapmap];0.89[AMR][1000 genomes]
rs9811282	0.89[AMR][1000 genomes]
rs9812307	0.88[TSI][hapmap];0.84[AMR][1000 genomes]
rs9815348	0.89[AMR][1000 genomes]
rs9819130	0.89[AMR][1000 genomes]
rs9830994	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9849437	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9849688	0.84[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes]
rs9854620	0.89[AMR][1000 genomes]
rs9858498	0.89[AMR][1000 genomes]
rs9864589	0.81[GIH][hapmap]
rs9872682	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9881679	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7638518	GFM1	Cis_1M	lymphoblastoid	RTeQTL
rs7638518	MLF1	cis	Muscle Skeletal	GTEx
rs7638518	MLF1	cis	lymphoblastoid	seeQTL

Chromatin state (count:7 , 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	chr3:158286400-158287600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:158286600-158288400	Weak transcription	HUVEC	blood vessel

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