Variant report

Variant	rs4797681
Chromosome Location	chr18:12404191-12404192
allele	A/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	CCNT2	chr18:12403930-12404205	K562	blood:	n/a	n/a
2	MEF2A	chr18:12403576-12404216	K562	blood:	n/a	n/a
3	RCOR1	chr18:12403735-12404288	K562	blood:	n/a	n/a
4	ARID3A	chr18:12403595-12404200	K562	blood:	n/a	n/a
5	JUND	chr18:12403713-12404303	Hela-S3	cervix:	n/a	chr18:12404068-12404079 chr18:12404090-12404101
6	MYC	chr18:12403453-12404210	K562	blood:	n/a	chr18:12403541-12403551 chr18:12403541-12403551 chr18:12403540-12403551 chr18:12403543-12403559 chr18:12403542-12403551
7	ATF1	chr18:12403865-12404226	K562	blood:	n/a	n/a
8	FOSL1	chr18:12403807-12404348	K562	blood:	n/a	chr18:12404068-12404079 chr18:12404090-12404101
9	MAZ	chr18:12403918-12404194	K562	blood:	n/a	n/a
10	JUND	chr18:12403934-12404211	HepG2	liver:	n/a	chr18:12404068-12404079 chr18:12404090-12404101
11	JUN	chr18:12403846-12404304	K562	blood:	n/a	n/a
12	JUND	chr18:12403596-12404483	SK-N-SH	brain:	n/a	chr18:12404451-12404461 chr18:12404068-12404079 chr18:12404451-12404461 chr18:12404090-12404101
13	FOSL2	chr18:12403867-12404222	A549	lung:	n/a	chr18:12404067-12404078
14	JUND	chr18:12403787-12404384	SK-N-SH	brain:	n/a	chr18:12404068-12404079 chr18:12404090-12404101
15	JUN	chr18:12403931-12404238	HepG2	liver:	n/a	n/a
16	JUND	chr18:12403875-12404350	A549	lung:	n/a	chr18:12404068-12404079 chr18:12404090-12404101
17	FOSL2	chr18:12403828-12404285	MCF-7	breast:	n/a	chr18:12404067-12404078
18	FOS	chr18:12403747-12404267	MCF10A-Er-Src	breast:	n/a	chr18:12404068-12404079 chr18:12404090-12404101
19	TCF12	chr18:12403686-12404424	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr18:12403869-12404246	SK-N-SH	brain:	n/a	n/a
21	JUN	chr18:12403767-12404253	Hela-S3	cervix:	n/a	n/a
22	JUN	chr18:12403340-12404355	K562	blood:	n/a	n/a
23	JUN	chr18:12403868-12404258	K562	blood:	n/a	n/a
24	GTF3C2	chr18:12403849-12404407	Hela-S3	cervix:	n/a	n/a
25	MAFK	chr18:12403882-12404223	HepG2	liver:	n/a	chr18:12404063-12404078
26	FOS	chr18:12403737-12404347	HUVEC	blood vessel:	n/a	chr18:12404068-12404079 chr18:12404090-12404101
27	RFX5	chr18:12403808-12404228	Hela-S3	cervix:	n/a	n/a
28	FOSL2	chr18:12403662-12404442	A549	lung:	n/a	chr18:12404067-12404078
29	JUND	chr18:12403883-12404270	HepG2	liver:	n/a	chr18:12404068-12404079 chr18:12404090-12404101
30	RCOR1	chr18:12403824-12404254	Hela-S3	cervix:	n/a	n/a
31	RCOR1	chr18:12403832-12404260	K562	blood:	n/a	n/a
32	MAFK	chr18:12403855-12404217	HepG2	liver:	n/a	chr18:12404063-12404078
33	GTF2F1	chr18:12403806-12404284	Hela-S3	cervix:	n/a	n/a
34	FOSL1	chr18:12403716-12404450	HCT-116	colon:	n/a	chr18:12404068-12404079 chr18:12404090-12404101
35	IRF1	chr18:12403642-12404211	K562	blood:	n/a	n/a
36	BATF	chr18:12403985-12404215	GM12878	blood:	n/a	chr18:12404066-12404077
37	MAFK	chr18:12403821-12404273	K562	blood:	n/a	chr18:12404063-12404078
38	MAFK	chr18:12403820-12404266	Hela-S3	cervix:	n/a	chr18:12404063-12404078
39	ATF3	chr18:12403814-12404222	K562	blood:	n/a	n/a
40	FOSL1	chr18:12403783-12404353	HCT-116	colon:	n/a	chr18:12404068-12404079 chr18:12404090-12404101
41	JUND	chr18:12403528-12404368	K562	blood:	n/a	chr18:12404068-12404079 chr18:12404090-12404101
42	FOSL2	chr18:12403752-12404325	SK-N-SH	brain:	n/a	chr18:12404067-12404078
43	ZC3H11A	chr18:12404072-12404243	K562	blood:	n/a	n/a
44	TBP	chr18:12403926-12404212	K562	blood:	n/a	n/a
45	FOS	chr18:12403822-12404264	K562	blood:	n/a	chr18:12404068-12404079 chr18:12404090-12404101
46	FOS	chr18:12403885-12404285	MCF10A-Er-Src	breast:	n/a	chr18:12404068-12404079 chr18:12404090-12404101
47	JUND	chr18:12403740-12404353	SK-N-SH	brain:	n/a	chr18:12404068-12404079 chr18:12404090-12404101
48	EP300	chr18:12403715-12404243	K562	blood:	n/a	n/a
49	MAX	chr18:12403983-12404238	K562	blood:	n/a	n/a
50	RCOR1	chr18:12403778-12404571	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12404079..12409500-chr18:12655702..12659746,9	K562	blood:
2	chr18:12400459..12404342-chr18:12406913..12409395,6	MCF-7	breast:

Variant related genes	Relation type
SLMO1	TF binding region
ENSG00000141391	Chromatin interaction
ENSG00000215527	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000134278	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10164125	0.80[AMR][1000 genomes]
rs11080575	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11662125	0.96[AMR][1000 genomes]
rs11662659	0.88[AMR][1000 genomes]
rs11665192	0.96[AMR][1000 genomes]
rs12964411	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28553933	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58493287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7242792	0.97[AMR][1000 genomes];0.93[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	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
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats 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 target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv1060728	chr18:12364077-12410409	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv978720	chr18:12395653-12408191	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
11	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4797681	SLMO1	cis	Artery Tibial	GTEx
rs4797681	SLMO1	cis	Thyroid	GTEx
rs4797681	AP001029.1	cis	Thyroid	GTEx
rs4797681	SLMO1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12394600-12407000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:12402000-12404600	Enhancers	HepG2	liver
3	chr18:12402000-12405200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr18:12402400-12405200	Enhancers	NHEK	skin
5	chr18:12402600-12405400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:12402800-12405400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr18:12402800-12405400	Enhancers	HMEC	breast
8	chr18:12403000-12404600	Enhancers	HSMMtube	muscle
9	chr18:12403400-12404200	Enhancers	HSMM	muscle
10	chr18:12403400-12404400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:12403400-12404400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr18:12403400-12404400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr18:12403400-12404400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr18:12403400-12404400	Flanking Active TSS	Hela-S3	cervix
15	chr18:12403400-12404400	Enhancers	NHLF	lung
16	chr18:12403600-12404200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:12403600-12404200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr18:12403600-12404400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr18:12403600-12404400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr18:12403600-12404400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:12403600-12404400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr18:12403600-12407400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:12403800-12404200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:12403800-12404200	Flanking Active TSS	NHDF-Ad	bronchial
25	chr18:12403800-12404400	Flanking Active TSS	A549	lung
26	chr18:12403800-12404400	Enhancers	HUVEC	blood vessel
27	chr18:12404000-12404200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr18:12404000-12404400	Enhancers	NH-A	brain
29	chr18:12404000-12404600	Enhancers	K562	blood
30	chr18:12404000-12404600	Enhancers	Osteobl	bone

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