Variant report

Variant	rs7238570
Chromosome Location	chr18:11853731-11853732
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	POLR2A	chr18:11849544-11856636	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr18:11849708-11855634	Hela-S3	cervix:	n/a	n/a
3	CHD1	chr18:11849434-11853974	IMR90	lung:	n/a	n/a
4	POLR2A	chr18:11853154-11853975	HepG2	liver:	n/a	n/a
5	POLR2A	chr18:11849786-11855757	A549	lung:	n/a	n/a
6	POLR2A	chr18:11848810-11859649	IMR90	lung:	n/a	n/a
7	POLR2A	chr18:11849742-11860299	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr18:11853674-11853841	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr18:11850180-11853827	K562	blood:	n/a	n/a
10	POLR2A	chr18:11853595-11853869	Hela-S3	cervix:	n/a	n/a
11	MYC	chr18:11853664-11853856	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr18:11849706-11860430	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:11852816..11854453-chr18:11871185..11873560,2	MCF-7	breast:
2	chr18:11848600..11852886-chr18:11853629..11859008,5	K562	blood:
3	chr18:11853727..11856399-chr18:11905762..11908760,2	K562	blood:

Variant related genes	Relation type
ENSG00000267165	TF binding region
GNAL	TF binding region
CHMP1B	TF binding region
ENSG00000273141	Chromatin interaction
ENSG00000267165	Chromatin interaction
ENSG00000154889	Chromatin interaction
ENSG00000141404	Chromatin interaction
ENSG00000255112	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1249625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1262042	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1262043	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1272340	1.00[AMR][1000 genomes]
rs1364630	1.00[AMR][1000 genomes]
rs1364634	1.00[AMR][1000 genomes]
rs1647542	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1647552	1.00[AMR][1000 genomes]
rs1863121	1.00[AMR][1000 genomes]
rs6505678	1.00[AMR][1000 genomes]
rs7230614	1.00[AMR][1000 genomes]
rs8088462	1.00[AMR][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11849800-11854000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr18:11850000-11853800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:11850200-11853800	Active TSS	Right Atrium	heart
4	chr18:11850200-11854000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr18:11850600-11853800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr18:11850800-11854200	Active TSS	A549	lung
7	chr18:11851800-11853800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr18:11851800-11853800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr18:11852000-11853800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr18:11852200-11853800	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr18:11852200-11853800	Flanking Active TSS	Fetal Brain Male	brain
12	chr18:11852200-11854400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr18:11852200-11854400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr18:11852200-11856200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:11852200-11856200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:11852400-11856200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:11852400-11857200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:11852400-11860000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr18:11852400-11880800	Weak transcription	Aorta	Aorta
20	chr18:11852600-11853800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr18:11852600-11853800	Flanking Active TSS	GM12878-XiMat	blood
22	chr18:11852600-11854400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr18:11852600-11857000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr18:11852800-11853800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr18:11852800-11854000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:11852800-11854200	Enhancers	Primary B cells from peripheral blood	blood
27	chr18:11852800-11854200	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr18:11852800-11856200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:11853000-11853800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:11853000-11853800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr18:11853000-11853800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:11853000-11853800	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr18:11853000-11853800	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr18:11853000-11853800	Flanking Active TSS	Thymus	Thymus
35	chr18:11853000-11853800	Transcr. at gene 5' and 3'	NHEK	skin
36	chr18:11853000-11853800	Flanking Active TSS	Osteobl	bone
37	chr18:11853000-11854400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr18:11853200-11853800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr18:11853200-11853800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr18:11853200-11853800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr18:11853200-11853800	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
42	chr18:11853200-11853800	Enhancers	Small Intestine	intestine
43	chr18:11853200-11853800	Enhancers	Stomach Mucosa	stomach
44	chr18:11853200-11854000	Enhancers	Gastric	stomach
45	chr18:11853200-11854000	Enhancers	Left Ventricle	heart
46	chr18:11853200-11854000	Enhancers	Lung	lung
47	chr18:11853200-11854000	Enhancers	Spleen	Spleen
48	chr18:11853200-11854600	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
49	chr18:11853400-11853800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr18:11853400-11853800	Active TSS	iPS-20b Cell Line	embryonic stem cell

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