Variant report

Variant	rs5018698
Chromosome Location	chr18:11856948-11856949
allele	A/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	SP1	chr18:11856884-11857970	A549	lung:	n/a	chr18:11857575-11857589
2	POLR2A	chr18:11848810-11859649	IMR90	lung:	n/a	n/a
3	FOXM1	chr18:11856907-11857993	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr18:11849742-11860299	MCF10A-Er-Src	breast:	n/a	n/a
5	SP1	chr18:11856906-11858043	HCT-116	colon:	n/a	chr18:11857575-11857589
6	TCF12	chr18:11856828-11858095	ECC-1	luminal epithelium:	n/a	chr18:11857167-11857176
7	EP300	chr18:11856937-11858013	A549	lung:	n/a	chr18:11857095-11857109 chr18:11857370-11857377 chr18:11857291-11857298
8	EP300	chr18:11856918-11857904	ECC-1	luminal epithelium:	n/a	chr18:11857095-11857109 chr18:11857370-11857377 chr18:11857291-11857298
9	EP300	chr18:11856939-11858052	A549	lung:	n/a	chr18:11857095-11857109 chr18:11857370-11857377 chr18:11857291-11857298
10	MYC	chr18:11856931-11858033	MCF10A-Er-Src	breast:	n/a	chr18:11857779-11857790 chr18:11857779-11857790
11	FOXM1	chr18:11856862-11857977	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr18:11856933-11858048	A549	lung:	n/a	chr18:11857779-11857790 chr18:11857779-11857790
13	NFIC	chr18:11856935-11857972	ECC-1	luminal epithelium:	n/a	n/a
14	TCF12	chr18:11856843-11858077	A549	lung:	n/a	chr18:11857167-11857176
15	POLR2A	chr18:11849706-11860430	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11848600..11852886-chr18:11853629..11859008,5	K562	blood:

Variant related genes	Relation type
ENSG00000267165	TF binding region
GNAL	TF binding region
ENSG00000267165	Chromatin interaction
ENSG00000255112	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1249628	0.95[ASN][1000 genomes]
rs16976742	0.95[ASN][1000 genomes]
rs16976749	1.00[ASN][1000 genomes]
rs3885902	1.00[ASN][1000 genomes]
rs4371220	0.91[ASN][1000 genomes]
rs5018699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018701	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018703	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018704	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61462499	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62097389	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs715688	1.00[ASN][1000 genomes]
rs7228231	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241336	0.91[ASN][1000 genomes]
rs73409587	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409590	1.00[ASN][1000 genomes]
rs73944918	0.95[ASN][1000 genomes]
rs73944920	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11852400-11857200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:11852400-11860000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:11852400-11880800	Weak transcription	Aorta	Aorta
4	chr18:11852600-11857000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr18:11853400-11857400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr18:11853400-11859200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr18:11853600-11857000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr18:11853600-11857000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr18:11853600-11857000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr18:11853600-11857000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr18:11853600-11857000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr18:11853600-11857400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr18:11853600-11857400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:11853600-11857400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr18:11853600-11857400	Weak transcription	Fetal Muscle Leg	muscle
16	chr18:11853600-11857600	Weak transcription	Fetal Thymus	thymus
17	chr18:11853600-11859200	Weak transcription	Right Ventricle	heart
18	chr18:11853600-11859600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr18:11853600-11883800	Weak transcription	Ovary	ovary
20	chr18:11853800-11857000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr18:11853800-11857000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr18:11853800-11857000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr18:11853800-11857000	Weak transcription	Adipose Nuclei	Adipose
24	chr18:11853800-11857000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr18:11853800-11857200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr18:11853800-11857200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr18:11853800-11857200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr18:11853800-11857200	Weak transcription	Brain Anterior Caudate	brain
29	chr18:11853800-11857200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr18:11853800-11857200	Weak transcription	Fetal Kidney	kidney
31	chr18:11853800-11857200	Weak transcription	K562	blood
32	chr18:11853800-11857400	Weak transcription	Placenta	Placenta
33	chr18:11853800-11857400	Weak transcription	Right Atrium	heart
34	chr18:11853800-11861000	Weak transcription	Fetal Lung	lung
35	chr18:11853800-11884200	Weak transcription	Brain Substantia Nigra	brain
36	chr18:11854000-11857000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr18:11854000-11857200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr18:11854000-11857200	Weak transcription	Left Ventricle	heart
39	chr18:11854000-11861600	Weak transcription	Spleen	Spleen
40	chr18:11854000-11875000	Weak transcription	Brain Hippocampus Middle	brain
41	chr18:11854000-11884200	Weak transcription	Brain Angular Gyrus	brain
42	chr18:11854200-11857000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr18:11854200-11857400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr18:11854200-11868200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr18:11854400-11868400	Weak transcription	Primary B cells from cord blood	blood
46	chr18:11854800-11889200	Weak transcription	Fetal Brain Male	brain
47	chr18:11855000-11857200	Weak transcription	Colon Smooth Muscle	Colon
48	chr18:11855200-11857000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr18:11855200-11857800	Strong transcription	Brain Germinal Matrix	brain
50	chr18:11855200-11857800	Weak transcription	Thymus	Thymus

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