Variant report

Variant	rs381560
Chromosome Location	chr6:13716711-13716712
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	CBX3	chr6:13716704-13717035	K562	blood:	n/a	n/a
3	MAFF	chr6:13716492-13716783	K562	blood:	n/a	chr6:13716650-13716668
4	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
5	MAFF	chr6:13716469-13716819	HepG2	liver:	n/a	chr6:13716650-13716668
6	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
7	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	chr6:13614005..13616960-chr6:13716595..13718707,2	MCF-7	breast:
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
ENSG00000261071	Chromatin interaction
ENSG00000225921	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs204241	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs204243	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs204246	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs204247	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs24023	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs368512	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs371729	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376024	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs379903	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs394312	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs396869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405447	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418053	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420874	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427140	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs441116	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441125	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495572	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495633	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571676	0.97[AMR][1000 genomes];1.00[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

No data

Chromatin state (count:13 , 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	chr6:13713600-13717200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:13714000-13718000	Weak transcription	Dnd41	blood
5	chr6:13714000-13722800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:13714000-13723400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:13715000-13717000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:13715400-13716800	Enhancers	HepG2	liver
9	chr6:13716000-13717200	Weak transcription	Esophagus	oesophagus
10	chr6:13716000-13718400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:13716400-13717400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:13716600-13717400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:13716600-13722800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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