Variant report

Variant	rs2509691
Chromosome Location	chr18:39763789-39763790
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	chr18:39763748-39764079	HUVEC	blood vessel:	n/a	chr18:39763923-39763932 chr18:39763899-39763910 chr18:39763923-39763930 chr18:39763923-39763931 chr18:39763921-39763932
2	EP300	chr18:39763740-39764115	SK-N-SH_RA	brain:	n/a	chr18:39763923-39763932
3	MAFK	chr18:39763717-39764096	HepG2	liver:	n/a	chr18:39763894-39763909 chr18:39763923-39763933 chr18:39763899-39763909 chr18:39763924-39763933 chr18:39763895-39763906 chr18:39763894-39763905 chr18:39763894-39763905 chr18:39763899-39763908
4	MAFK	chr18:39763726-39764130	Hela-S3	cervix:	n/a	chr18:39763894-39763909 chr18:39763923-39763933 chr18:39763899-39763909 chr18:39763924-39763933 chr18:39763895-39763906 chr18:39763894-39763905 chr18:39763894-39763905 chr18:39763899-39763908
5	EP300	chr18:39763602-39764206	SK-N-SH	brain:	n/a	chr18:39763724-39763738 chr18:39763923-39763932
6	MAFK	chr18:39763723-39764095	HepG2	liver:	n/a	chr18:39763894-39763909 chr18:39763923-39763933 chr18:39763899-39763909 chr18:39763924-39763933 chr18:39763895-39763906 chr18:39763894-39763905 chr18:39763894-39763905 chr18:39763899-39763908
7	FOSL2	chr18:39763588-39764256	SK-N-SH	brain:	n/a	chr18:39763923-39763932 chr18:39763923-39763930 chr18:39763923-39763931
8	EP300	chr18:39763657-39764146	SK-N-SH_RA	brain:	n/a	chr18:39763724-39763738 chr18:39763923-39763932
9	MAFF	chr18:39763760-39764053	K562	blood:	n/a	chr18:39763892-39763910 chr18:39763921-39763939
10	MAFK	chr18:39763473-39764105	IMR90	lung:	n/a	chr18:39763894-39763909 chr18:39763923-39763933 chr18:39763899-39763909 chr18:39763924-39763933 chr18:39763670-39763681 chr18:39763895-39763906 chr18:39763894-39763905 chr18:39763894-39763905 chr18:39763899-39763908
11	PBX3	chr18:39763337-39764132	SK-N-SH	brain:	n/a	n/a
12	FOSL2	chr18:39763745-39764062	HepG2	liver:	n/a	chr18:39763923-39763932 chr18:39763923-39763930 chr18:39763923-39763931
13	FOS	chr18:39763723-39764138	MCF10A-Er-Src	breast:	n/a	chr18:39763923-39763932 chr18:39763899-39763910 chr18:39763923-39763930 chr18:39763923-39763931 chr18:39763921-39763932
14	MYC	chr18:39763774-39764019	MCF10A-Er-Src	breast:	n/a	chr18:39763923-39763932 chr18:39763922-39763931
15	TCF12	chr18:39762661-39764226	SK-N-SH	brain:	n/a	n/a
16	JUND	chr18:39763750-39764094	HepG2	liver:	n/a	chr18:39763923-39763932 chr18:39763899-39763910 chr18:39763921-39763932 chr18:39763923-39763930 chr18:39763923-39763931
17	POLR2A	chr18:39763722-39764172	U87	brain:	n/a	n/a
18	JUN	chr18:39763764-39764015	HepG2	liver:	n/a	chr18:39763923-39763932 chr18:39763923-39763930 chr18:39763923-39763931
19	JUND	chr18:39763748-39764096	Hela-S3	cervix:	n/a	chr18:39763923-39763932 chr18:39763899-39763910 chr18:39763921-39763932 chr18:39763923-39763930 chr18:39763923-39763931
20	REST	chr18:39763772-39764045	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr18:39763734-39764175	U87	brain:	n/a	n/a
22	GATA3	chr18:39762635-39764215	SK-N-SH	brain:	n/a	chr18:39763902-39763911
23	NFIC	chr18:39763636-39764194	SK-N-SH	brain:	n/a	n/a
24	JUND	chr18:39763547-39764193	SK-N-SH	brain:	n/a	chr18:39763923-39763932 chr18:39763899-39763910 chr18:39763921-39763932 chr18:39763923-39763930 chr18:39763923-39763931
25	BACH1	chr18:39763737-39764096	H1-hESC	embryonic stem cell:	n/a	chr18:39763920-39763934
26	JUND	chr18:39763702-39764175	SK-N-SH	brain:	n/a	chr18:39763923-39763932 chr18:39763899-39763910 chr18:39763921-39763932 chr18:39763923-39763930 chr18:39763923-39763931
27	FOS	chr18:39763717-39764162	MCF10A-Er-Src	breast:	n/a	chr18:39763923-39763932 chr18:39763899-39763910 chr18:39763923-39763930 chr18:39763923-39763931 chr18:39763921-39763932
28	FOSL2	chr18:39763702-39764116	A549	lung:	n/a	chr18:39763923-39763932 chr18:39763923-39763930 chr18:39763923-39763931
29	STAT3	chr18:39763768-39764045	MCF10A-Er-Src	breast:	n/a	chr18:39763882-39763894 chr18:39763850-39763861 chr18:39763923-39763932 chr18:39763922-39763931
30	GATA3	chr18:39763738-39764178	SK-N-SH	brain:	n/a	chr18:39763902-39763911
31	POLR2A	chr18:39763651-39764172	U87	brain:	n/a	n/a
32	RAD21	chr18:39763740-39764128	SK-N-SH_RA	brain:	n/a	n/a
33	MAFK	chr18:39763740-39764054	H1-hESC	embryonic stem cell:	n/a	chr18:39763894-39763909 chr18:39763923-39763933 chr18:39763899-39763909 chr18:39763924-39763933 chr18:39763895-39763906 chr18:39763894-39763905 chr18:39763894-39763905 chr18:39763899-39763908
34	MAFK	chr18:39763750-39764049	K562	blood:	n/a	chr18:39763894-39763909 chr18:39763923-39763933 chr18:39763899-39763909 chr18:39763924-39763933 chr18:39763895-39763906 chr18:39763894-39763905 chr18:39763894-39763905 chr18:39763899-39763908
35	TCF12	chr18:39762679-39764283	SK-N-SH	brain:	n/a	n/a
36	MAFF	chr18:39763720-39764098	HepG2	liver:	n/a	chr18:39763892-39763910 chr18:39763921-39763939
37	JUND	chr18:39763599-39764191	SK-N-SH	brain:	n/a	chr18:39763923-39763932 chr18:39763899-39763910 chr18:39763921-39763932 chr18:39763923-39763930 chr18:39763923-39763931
38	FOS	chr18:39763698-39764108	MCF10A-Er-Src	breast:	n/a	chr18:39763923-39763932 chr18:39763899-39763910 chr18:39763923-39763930 chr18:39763923-39763931 chr18:39763921-39763932
39	FOS	chr18:39763736-39764114	MCF10A-Er-Src	breast:	n/a	chr18:39763923-39763932 chr18:39763899-39763910 chr18:39763923-39763930 chr18:39763923-39763931 chr18:39763921-39763932
40	RAD21	chr18:39763763-39764014	SK-N-SH_RA	brain:	n/a	n/a
41	POLR2A	chr18:39763760-39763999	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
LINC00907	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs500824	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs574957	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv34153	chr18:39398768-39872265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv909568	chr18:39491873-39768746	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv833631	chr18:39633503-39824091	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1067132	chr18:39691269-39808287	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
6	nsv543687	chr18:39691269-39808287	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
7	nsv1059409	chr18:39711099-40139446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv909569	chr18:39715794-39791233	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	inside rSNPs	n/a
9	esv2830038	chr18:39731208-39800893	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	n/a
10	nsv909570	chr18:39731208-39800893	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	n/a
11	nsv909571	chr18:39744969-39803821	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	inside rSNPs	n/a
12	nsv525562	chr18:39749562-39800893	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	inside rSNPs	n/a
13	nsv1063343	chr18:39760943-39898498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39762000-39764200	Enhancers	NH-A	brain
2	chr18:39762000-39764600	Enhancers	HMEC	breast
3	chr18:39762600-39764400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:39762600-39764400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr18:39762600-39764400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr18:39762600-39764400	Enhancers	HSMM	muscle
7	chr18:39762800-39764200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:39762800-39764400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:39762800-39764400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:39762800-39764400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr18:39762800-39764400	Enhancers	NHEK	skin
12	chr18:39763000-39764200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:39763000-39764200	Enhancers	A549	lung
14	chr18:39763000-39764200	Enhancers	Osteobl	bone
15	chr18:39763200-39764200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:39763200-39764200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:39763200-39764200	Enhancers	HSMMtube	muscle
18	chr18:39763200-39764200	Enhancers	NHDF-Ad	bronchial
19	chr18:39763200-39764400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr18:39763200-39764400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:39763400-39764000	Enhancers	Left Ventricle	heart
22	chr18:39763400-39764000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr18:39763400-39764200	Enhancers	Esophagus	oesophagus
24	chr18:39763400-39764200	Enhancers	Hela-S3	cervix

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