Variant report

Variant	rs441125
Chromosome Location	chr6:13716592-13716593
allele	C/T
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	MAFK	chr6:13716478-13716826	HepG2	liver:	n/a	chr6:13716646-13716666 chr6:13716655-13716666 chr6:13716656-13716667 chr6:13716547-13716561 chr6:13716651-13716666 chr6:13716656-13716667 chr6:13716549-13716560 chr6:13716655-13716666 chr6:13716651-13716667 chr6:13716654-13716668
2	MAFF	chr6:13716492-13716783	K562	blood:	n/a	chr6:13716650-13716668
3	MAFK	chr6:13716494-13716823	IMR90	lung:	n/a	chr6:13716646-13716666 chr6:13716655-13716666 chr6:13716656-13716667 chr6:13716547-13716561 chr6:13716651-13716666 chr6:13716656-13716667 chr6:13716549-13716560 chr6:13716655-13716666 chr6:13716651-13716667 chr6:13716654-13716668
4	MAFF	chr6:13716469-13716819	HepG2	liver:	n/a	chr6:13716650-13716668
5	MAFK	chr6:13716492-13716816	K562	blood:	n/a	chr6:13716646-13716666 chr6:13716655-13716666 chr6:13716656-13716667 chr6:13716547-13716561 chr6:13716651-13716666 chr6:13716656-13716667 chr6:13716549-13716560 chr6:13716655-13716666 chr6:13716651-13716667 chr6:13716654-13716668
6	MAFK	chr6:13716469-13716832	HepG2	liver:	n/a	chr6:13716646-13716666 chr6:13716655-13716666 chr6:13716656-13716667 chr6:13716547-13716561 chr6:13716651-13716666 chr6:13716656-13716667 chr6:13716549-13716560 chr6:13716655-13716666 chr6:13716651-13716667 chr6:13716654-13716668

No.	Distal block	Cell Line	Cell type
1	chr6:13615378..13616963-chr6:13714230..13716669,2	K562	blood:
2	chr6:13658437..13687167-chr6:13707669..13717356,51	K562	blood:
3	chr6:13713710..13717343-chr6:13751875..13754798,3	MCF-7	breast:
4	chr6:13659651..13661542-chr6:13715805..13717920,2	MCF-7	breast:
5	chr6:13677099..13683232-chr6:13708060..13717356,16	K562	blood:
6	chr6:13710738..13712943-chr6:13714753..13716732,2	MCF-7	breast:

Variant related genes	Relation type
RANBP9	TF binding region
ENSG00000252966	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000261071	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs204241	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs204243	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs204246	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs204247	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs24023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs368512	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs371729	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376024	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs379903	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs381551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap]
rs381560	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394312	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs396869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405447	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418053	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420874	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427140	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs441116	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495572	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495633	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571676	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv883451	chr6:13704341-13728670	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv883452	chr6:13704341-13733565	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	esv3352859	chr6:13713873-13716971	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs441125	C6orf218	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13712800-13716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:13712800-13717000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:13713000-13716600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:13713600-13717200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:13714000-13718000	Weak transcription	Dnd41	blood
6	chr6:13714000-13722800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:13714000-13723400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:13715000-13716600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:13715000-13717000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr6:13715400-13716800	Enhancers	HepG2	liver
11	chr6:13716000-13717200	Weak transcription	Esophagus	oesophagus
12	chr6:13716000-13718400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr6:13716400-13716600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr6:13716400-13717400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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