Variant report

Variant	rs9949203
Chromosome Location	chr18:12638301-12638302
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	CEBPB	chr18:12637899-12638386	A549	lung:	n/a	n/a
2	CEBPB	chr18:12637436-12638311	A549	lung:	n/a	chr18:12637630-12637641
3	STAT3	chr18:12637525-12638307	MCF10A-Er-Src	breast:	n/a	chr18:12638044-12638052
4	CEBPB	chr18:12637382-12638318	IMR90	lung:	n/a	chr18:12637630-12637641
5	STAT3	chr18:12637525-12638348	MCF10A-Er-Src	breast:	n/a	chr18:12638044-12638052
6	STAT3	chr18:12637487-12638350	MCF10A-Er-Src	breast:	n/a	chr18:12638044-12638052
7	ZNF263	chr18:12638255-12638762	HEK293-T-REx	kidney:	n/a	n/a
8	FOS	chr18:12637392-12638324	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr18:12637425-12638345	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr18:12637468-12638316	MCF10A-Er-Src	breast:	n/a	n/a
11	BCL3	chr18:12638277-12638653	GM12878	blood:	n/a	n/a
12	FOS	chr18:12637921-12638306	MCF10A-Er-Src	breast:	n/a	n/a
13	CEBPB	chr18:12638058-12638304	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12638057..12640696-chr18:12655974..12658734,3	MCF-7	breast:

Variant related genes	Relation type
SPIRE1	TF binding region
ENSG00000215527	Chromatin interaction
ENSG00000134278	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs28411962	1.00[AMR][1000 genomes]
rs28504345	1.00[AMR][1000 genomes]
rs28533061	1.00[AMR][1000 genomes]
rs28557018	1.00[AMR][1000 genomes]
rs28599545	1.00[AMR][1000 genomes]
rs28603194	1.00[AMR][1000 genomes]
rs28608782	1.00[AMR][1000 genomes]
rs28734798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9945568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9946958	1.00[AMR][1000 genomes]
rs9947177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9947285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9950017	1.00[AMR][1000 genomes]
rs9950999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9953587	1.00[AMR][1000 genomes]
rs9954340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9957046	1.00[AMR][1000 genomes]
rs9958917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9960826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9961389	1.00[AMR][1000 genomes]
rs9961477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9961556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
4	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
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv1820040	chr18:12635601-12725236	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv1817845	chr18:12635601-12733705	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1821625	chr18:12635601-12733705	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12602200-12638400	Weak transcription	Fetal Brain Female	brain
2	chr18:12607000-12640200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr18:12607800-12651800	Weak transcription	Brain Germinal Matrix	brain
4	chr18:12616400-12640400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:12616400-12644800	Weak transcription	Brain Hippocampus Middle	brain
6	chr18:12616600-12645200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr18:12621200-12645200	Weak transcription	Fetal Muscle Leg	muscle
8	chr18:12622800-12645000	Weak transcription	Brain Angular Gyrus	brain
9	chr18:12625400-12640400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr18:12626600-12640600	Weak transcription	Lung	lung
11	chr18:12629800-12638400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:12629800-12640400	Weak transcription	HSMMtube	muscle
13	chr18:12630400-12645400	Weak transcription	Ovary	ovary
14	chr18:12630800-12640600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr18:12631000-12638600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr18:12631000-12640400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr18:12631000-12645200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr18:12631000-12645200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr18:12631200-12640400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr18:12631200-12647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr18:12631400-12645200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr18:12633600-12655800	Weak transcription	Fetal Stomach	stomach
23	chr18:12635000-12640000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr18:12635000-12645800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr18:12635200-12640600	Weak transcription	Gastric	stomach
26	chr18:12635200-12645800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:12636000-12640400	Weak transcription	Hela-S3	cervix
28	chr18:12636800-12638600	Enhancers	Osteobl	bone
29	chr18:12637000-12638600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr18:12637200-12638800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:12637200-12640000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr18:12637200-12641200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr18:12637400-12638800	Enhancers	NHDF-Ad	bronchial
34	chr18:12637600-12638400	Enhancers	Left Ventricle	heart
35	chr18:12637600-12638400	Enhancers	NH-A	brain
36	chr18:12637600-12638600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:12637600-12638600	Enhancers	HMEC	breast
38	chr18:12637600-12638600	Enhancers	K562	blood
39	chr18:12637600-12638800	Enhancers	NHEK	skin
40	chr18:12637600-12638800	Enhancers	NHLF	lung
41	chr18:12637600-12640000	Enhancers	A549	lung
42	chr18:12637600-12641200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr18:12637800-12638600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr18:12637800-12639000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr18:12637800-12643400	Weak transcription	Psoas Muscle	Psoas
46	chr18:12637800-12645400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr18:12637800-12652000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:12638000-12638600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr18:12638000-12638800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr18:12638000-12639000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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