Variant report

Variant	rs11663425
Chromosome Location	chr18:12080046-12080047
allele	C/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	FOS	chr18:12079854-12080079	MCF10A-Er-Src	breast:	n/a	chr18:12079959-12079968 chr18:12079961-12079972 chr18:12079958-12079969
2	FOSL2	chr18:12079840-12080191	HepG2	liver:	n/a	chr18:12079959-12079968 chr18:12079961-12079972
3	MAFF	chr18:12079900-12080240	HepG2	liver:	n/a	chr18:12080066-12080084
4	SP1	chr18:12079864-12080218	HepG2	liver:	n/a	n/a
5	TEAD4	chr18:12079773-12080228	HepG2	liver:	n/a	n/a
6	FOS	chr18:12079802-12080184	HUVEC	blood vessel:	n/a	chr18:12079959-12079968 chr18:12079961-12079972 chr18:12079958-12079969
7	TCF12	chr18:12079907-12080074	HepG2	liver:	n/a	n/a
8	POLR2A	chr18:12080046-12080133	HUVEC	blood vessel:	n/a	n/a
9	MAFK	chr18:12079888-12080249	HepG2	liver:	n/a	chr18:12080067-12080082
10	MAFK	chr18:12079907-12080233	IMR90	lung:	n/a	chr18:12080067-12080082
11	MAFK	chr18:12079906-12080233	HepG2	liver:	n/a	chr18:12080067-12080082
12	FOSL2	chr18:12079876-12080136	HepG2	liver:	n/a	chr18:12079959-12079968 chr18:12079961-12079972
13	JUND	chr18:12079926-12080077	HepG2	liver:	n/a	chr18:12079959-12079968 chr18:12079961-12079972
14	POLR2A	chr18:12079708-12080197	HUVEC	blood vessel:	n/a	n/a
15	MAFK	chr18:12079911-12080276	Hela-S3	cervix:	n/a	chr18:12080067-12080082

Variant related genes	Relation type
ENSG00000267722	TF binding region
ENSG00000256616	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10853218	0.86[ASN][1000 genomes]
rs11080540	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11662286	0.82[ASN][1000 genomes]
rs11662304	0.86[ASN][1000 genomes]
rs11664969	0.84[ASN][1000 genomes]
rs12455916	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12605611	0.82[ASN][1000 genomes]
rs12606540	0.83[ASN][1000 genomes]
rs12607922	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28395459	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34887196	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34935192	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35578149	0.86[ASN][1000 genomes]
rs4419121	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4468696	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4468697	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4636985	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55738573	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56032100	0.85[ASN][1000 genomes]
rs56153833	0.88[ASN][1000 genomes]
rs56966010	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57681673	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60755330	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7237125	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7237465	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7237955	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9303757	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9652909	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9652929	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9946641	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9951477	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9966458	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv909391	chr18:11989416-12146408	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909392	chr18:11989416-12146698	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv909393	chr18:12001258-12155371	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv909394	chr18:12017343-12141372	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
13	nsv909397	chr18:12062004-12083314	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv828181	chr18:12065246-12091392	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12076800-12085800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:12077000-12095000	Weak transcription	Right Atrium	heart
3	chr18:12078800-12080400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr18:12078800-12080600	Enhancers	Fetal Muscle Leg	muscle
5	chr18:12079400-12080200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr18:12079400-12080200	Enhancers	HSMMtube	muscle
7	chr18:12079400-12080400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr18:12079400-12080400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr18:12079400-12080600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr18:12079400-12080600	Enhancers	HUVEC	blood vessel
11	chr18:12079400-12080600	Enhancers	NH-A	brain
12	chr18:12079600-12080400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr18:12079600-12080400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:12079600-12080400	Enhancers	Fetal Lung	lung
15	chr18:12079600-12080400	Enhancers	Ovary	ovary
16	chr18:12079600-12080400	Enhancers	HMEC	breast
17	chr18:12079600-12080400	Enhancers	HSMM	muscle
18	chr18:12079600-12080400	Enhancers	Osteobl	bone
19	chr18:12079600-12080600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:12079600-12080600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr18:12079800-12080400	Enhancers	NHDF-Ad	bronchial

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