Variant report

Variant	rs9951023
Chromosome Location	chr18:11325608-11325609
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	MAX	chr18:11325194-11325778	SK-N-SH	brain:	n/a	chr18:11325575-11325584 chr18:11325397-11325406
2	MEF2A	chr18:11325088-11325857	SK-N-SH	brain:	n/a	chr18:11325397-11325405
3	RXRA	chr18:11325099-11325768	SK-N-SH	brain:	n/a	n/a
4	CEBPB	chr18:11325136-11325747	IMR90	lung:	n/a	n/a
5	TEAD4	chr18:11324468-11325842	SK-N-SH	brain:	n/a	n/a
6	NFIC	chr18:11325166-11325794	SK-N-SH	brain:	n/a	n/a
7	FOXM1	chr18:11325136-11325836	SK-N-SH	brain:	n/a	n/a
8	FOSL2	chr18:11325041-11325706	SK-N-SH	brain:	n/a	chr18:11325382-11325394 chr18:11325395-11325407 chr18:11325397-11325405 chr18:11325400-11325407 chr18:11325395-11325406 chr18:11325398-11325409
9	TCF12	chr18:11324376-11326846	SK-N-SH	brain:	n/a	n/a
10	TEAD4	chr18:11325007-11325909	SK-N-SH	brain:	n/a	n/a
11	IRF4	chr18:11325086-11325645	GM12878	blood:	n/a	n/a
12	RCOR1	chr18:11325354-11325723	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr18:11325370-11325671	SK-N-SH	brain:	n/a	n/a
14	RFX5	chr18:11325467-11325826	HepG2	liver:	n/a	n/a
15	TCF12	chr18:11324390-11326835	SK-N-SH	brain:	n/a	n/a
16	BCLAF1	chr18:11325109-11325628	GM12878	blood:	n/a	n/a
17	POLR2A	chr18:11324983-11325685	U87	brain:	n/a	n/a
18	JUND	chr18:11324889-11325824	SK-N-SH	brain:	n/a	chr18:11325382-11325394 chr18:11325395-11325407 chr18:11325397-11325405 chr18:11325400-11325407 chr18:11325395-11325406 chr18:11325395-11325406 chr18:11325398-11325409
19	FOSL2	chr18:11325194-11325633	A549	lung:	n/a	chr18:11325382-11325394 chr18:11325395-11325407 chr18:11325397-11325405 chr18:11325400-11325407 chr18:11325395-11325406 chr18:11325398-11325409
20	CEBPB	chr18:11325483-11325700	HepG2	liver:	n/a	n/a
21	PBX3	chr18:11324453-11325890	SK-N-SH	brain:	n/a	n/a
22	USF2	chr18:11325176-11325647	Hela-S3	cervix:	n/a	n/a
23	NFIC	chr18:11324323-11325894	SK-N-SH	brain:	n/a	n/a
24	RUNX3	chr18:11325052-11325667	GM12878	blood:	n/a	n/a
25	JUND	chr18:11325079-11325737	GM12878	blood:	n/a	chr18:11325382-11325394 chr18:11325395-11325407 chr18:11325397-11325405 chr18:11325400-11325407 chr18:11325395-11325406 chr18:11325395-11325406 chr18:11325398-11325409
26	BATF	chr18:11325125-11325730	GM12878	blood:	n/a	chr18:11325387-11325396
27	RUNX3	chr18:11325111-11325630	GM12878	blood:	n/a	n/a
28	MAX	chr18:11324927-11325835	SK-N-SH	brain:	n/a	chr18:11325575-11325584 chr18:11325397-11325406
29	MEF2A	chr18:11325146-11325642	SK-N-SH	brain:	n/a	chr18:11325397-11325405
30	GATA3	chr18:11324238-11326816	SK-N-SH	brain:	n/a	chr18:11325530-11325543 chr18:11326339-11326346 chr18:11325486-11325499 chr18:11325398-11325407 chr18:11325489-11325497
31	IRF4	chr18:11325094-11325652	GM12878	blood:	n/a	n/a
32	EP300	chr18:11324319-11326790	SK-N-SH	brain:	n/a	chr18:11324361-11324369
33	PBX3	chr18:11324374-11326741	SK-N-SH	brain:	n/a	n/a
34	EP300	chr18:11325290-11325648	Hela-S3	cervix:	n/a	n/a
35	MAFK	chr18:11324662-11325667	IMR90	lung:	n/a	chr18:11325450-11325459 chr18:11325113-11325124 chr18:11325113-11325124 chr18:11325113-11325129 chr18:11325114-11325125 chr18:11325113-11325128 chr18:11325114-11325125 chr18:11325112-11325126 chr18:11325450-11325460
36	RXRA	chr18:11324482-11325892	SK-N-SH	brain:	n/a	chr18:11324497-11324504 chr18:11324805-11324821
37	JUN	chr18:11325231-11325711	Hela-S3	cervix:	n/a	chr18:11325382-11325394 chr18:11325395-11325407 chr18:11325397-11325405 chr18:11325400-11325407 chr18:11325395-11325406 chr18:11325398-11325409
38	GATA3	chr18:11323118-11326963	SK-N-SH	brain:	n/a	chr18:11323724-11323733 chr18:11325530-11325543 chr18:11323724-11323731 chr18:11323747-11323756 chr18:11326339-11326346 chr18:11325486-11325499 chr18:11325398-11325407 chr18:11323723-11323731 chr18:11325489-11325497
39	FOXM1	chr18:11324637-11326762	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr18:11324989-11325679	U87	brain:	n/a	n/a
41	CEBPB	chr18:11325205-11325714	Hela-S3	cervix:	n/a	n/a
42	JUND	chr18:11324512-11325924	SK-N-SH	brain:	n/a	chr18:11325382-11325394 chr18:11325395-11325407 chr18:11325397-11325405 chr18:11325400-11325407 chr18:11325395-11325406 chr18:11325395-11325406 chr18:11325398-11325409
43	JUND	chr18:11324361-11325898	SK-N-SH	brain:	n/a	chr18:11325382-11325394 chr18:11325395-11325407 chr18:11325397-11325405 chr18:11325400-11325407 chr18:11325395-11325406 chr18:11325395-11325406 chr18:11325398-11325409
44	WRNIP1	chr18:11325218-11325648	GM12878	blood:	n/a	n/a
45	EP300	chr18:11324112-11326752	SK-N-SH	brain:	n/a	chr18:11324361-11324369
46	JUND	chr18:11325214-11325664	Hela-S3	cervix:	n/a	chr18:11325382-11325394 chr18:11325395-11325407 chr18:11325397-11325405 chr18:11325400-11325407 chr18:11325395-11325406 chr18:11325395-11325406 chr18:11325398-11325409
47	EP300	chr18:11324444-11326742	SK-N-SH	brain:	n/a	n/a
48	NFIC	chr18:11325175-11325633	GM12878	blood:	n/a	n/a
49	EBF1	chr18:11325046-11325616	GM12878	blood:	n/a	n/a
50	EP300	chr18:11325231-11325764	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000263682	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12326594	1.00[EUR][1000 genomes]
rs12327533	1.00[EUR][1000 genomes]
rs1455246	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16976151	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976152	1.00[ASN][1000 genomes]
rs16976153	1.00[ASN][1000 genomes]
rs1874772	0.97[ASN][1000 genomes]
rs2124228	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs28380540	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28406157	0.97[ASN][1000 genomes]
rs28496831	0.97[ASN][1000 genomes]
rs28505571	1.00[ASN][1000 genomes]
rs28713321	0.97[ASN][1000 genomes]
rs28762125	0.97[ASN][1000 genomes]
rs36057401	0.97[ASN][1000 genomes]
rs57090259	1.00[EUR][1000 genomes]
rs58092154	1.00[EUR][1000 genomes]
rs59591408	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60194051	1.00[EUR][1000 genomes]
rs7230024	0.97[ASN][1000 genomes]
rs7231039	1.00[EUR][1000 genomes]
rs7231185	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401675	1.00[EUR][1000 genomes]
rs73402984	1.00[ASN][1000 genomes]
rs73402985	1.00[ASN][1000 genomes]
rs8092521	0.97[ASN][1000 genomes]
rs8092523	0.97[ASN][1000 genomes]
rs8094486	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8094727	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8095281	0.97[ASN][1000 genomes]
rs902969	0.97[ASN][1000 genomes]
rs902970	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9950278	0.97[ASN][1000 genomes]
rs9950284	0.90[ASN][1000 genomes]
rs9953018	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9955801	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9956107	0.97[ASN][1000 genomes]
rs9956498	0.97[ASN][1000 genomes]
rs9959689	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9963723	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9964195	0.97[ASN][1000 genomes]
rs9964199	0.97[ASN][1000 genomes]
rs9964337	0.97[ASN][1000 genomes]
rs9965049	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458029	chr18:10814334-11662151	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv576480	chr18:10814334-11662151	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1057976	chr18:11251898-11664914	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv543650	chr18:11251898-11664914	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
6	nsv833589	chr18:11293101-11454521	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11320200-11328200	Enhancers	NHDF-Ad	bronchial
2	chr18:11320400-11327000	Enhancers	NH-A	brain
3	chr18:11321000-11327400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr18:11321200-11327000	Weak transcription	Fetal Muscle Leg	muscle
5	chr18:11321600-11325800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:11322800-11327800	Enhancers	NHLF	lung
7	chr18:11323000-11328200	Enhancers	HSMM	muscle
8	chr18:11323000-11328200	Enhancers	HSMMtube	muscle
9	chr18:11323200-11328200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:11323400-11328000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr18:11323600-11327200	Weak transcription	Adipose Nuclei	Adipose
12	chr18:11324400-11326200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:11324600-11326600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr18:11324600-11328200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr18:11325000-11325800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr18:11325000-11325800	Enhancers	Dnd41	blood
17	chr18:11325000-11325800	Flanking Active TSS	GM12878-XiMat	blood
18	chr18:11325000-11326400	Enhancers	HMEC	breast
19	chr18:11325200-11326000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:11325200-11326200	Enhancers	NHEK	skin
21	chr18:11325400-11325800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:11325400-11327400	Weak transcription	Fetal Heart	heart
23	chr18:11325400-11328200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:11325400-11328200	Enhancers	Osteobl	bone
25	chr18:11325400-11333000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:11325600-11325800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:11325600-11325800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr18:11325600-11325800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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