Variant report

Variant	rs6506411
Chromosome Location	chr18:75839-75840
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	POLR2A	chr18:75759-76004	A549	lung:	n/a	n/a
2	CTCF	chr18:75684-76243	K562	blood:	n/a	chr18:75892-75905 chr18:76015-76028 chr18:76014-76030 chr18:76013-76031
3	CTCF	chr18:75744-76097	A549	lung:	n/a	chr18:75892-75905 chr18:76015-76028 chr18:76014-76030 chr18:76013-76031
4	SPI1	chr18:75835-75977	K562	blood:	n/a	chr18:75919-75926
5	PAX5	chr18:75805-76067	GM12878	blood:	n/a	n/a
6	POLR2A	chr18:75693-75935	MCF-7	breast:	n/a	n/a
7	CTCF	chr18:75690-76213	K562	blood:	n/a	chr18:75892-75905 chr18:76015-76028 chr18:76014-76030 chr18:76013-76031
8	CTCF	chr18:75711-76158	A549	lung:	n/a	chr18:75892-75905 chr18:76015-76028 chr18:76014-76030 chr18:76013-76031
9	CTCF	chr18:75676-76317	A549	lung:	n/a	chr18:75892-75905 chr18:76015-76028 chr18:76014-76030 chr18:76013-76031
10	POLR2A	chr18:75796-75935	A549	lung:	n/a	n/a
11	CTCF	chr18:75615-76304	K562	blood:	n/a	chr18:75892-75905 chr18:76015-76028 chr18:76014-76030 chr18:76013-76031
12	POLR2A	chr18:75798-75907	A549	lung:	n/a	n/a
13	GATA2	chr18:75831-76202	K562	blood:	n/a	n/a
14	ZBTB33	chr18:75660-75996	K562	blood:	n/a	n/a
15	CTCF	chr18:75830-76143	A549	lung:	n/a	chr18:75892-75905 chr18:76015-76028 chr18:76014-76030 chr18:76013-76031
16	POLR2A	chr18:75714-75893	A549	lung:	n/a	n/a
17	PAX5	chr18:75809-76074	GM12878	blood:	n/a	n/a
18	CBX3	chr18:75764-76203	K562	blood:	n/a	n/a
19	POLR2A	chr18:75561-76124	MCF-7	breast:	n/a	n/a
20	FOSL2	chr18:75823-76155	HepG2	liver:	n/a	n/a
21	POLR2A	chr18:75623-76003	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000173213	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16973577	1.00[ASN][1000 genomes]
rs17842115	1.00[ASN][1000 genomes]
rs4505416	1.00[ASN][1000 genomes]
rs55656107	1.00[ASN][1000 genomes]
rs55856634	1.00[ASN][1000 genomes]
rs56295463	1.00[ASN][1000 genomes]
rs9944833	1.00[ASN][1000 genomes]
rs9945525	1.00[ASN][1000 genomes]
rs9960980	0.84[EUR][1000 genomes]
rs9963684	1.00[ASN][1000 genomes]
rs9966301	1.00[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	nsv909285	chr18:10001-196829	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv21286	chr18:10657-105963	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1059917	chr18:11543-175067	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1059509	chr18:11543-190140	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1064673	chr18:11543-249310	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1061730	chr18:11543-322183	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv1059645	chr18:11543-326679	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv909286	chr18:12842-139767	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv962479	chr18:16279-87956	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv442428	chr18:48133-78539	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv576227	chr18:52933-322183	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:67200-84400	Weak transcription	Right Atrium	heart
2	chr18:73800-78200	Weak transcription	HepG2	liver
3	chr18:75600-76000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr18:75600-76000	Flanking Active TSS	Placenta	Placenta
5	chr18:75600-76000	Active TSS	A549	lung

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