Variant report

Variant	rs73939447
Chromosome Location	chr18:8368289-8368290
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	CUX1	chr18:8368191-8368342	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000266149	TF binding region
PTPRM	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs16953398	1.00[EUR][1000 genomes]
rs16953436	1.00[EUR][1000 genomes]
rs2155754	1.00[EUR][1000 genomes]
rs56833614	1.00[EUR][1000 genomes]
rs59280133	1.00[EUR][1000 genomes]
rs641358	1.00[EUR][1000 genomes]
rs6506581	1.00[EUR][1000 genomes]
rs7231964	1.00[EUR][1000 genomes]
rs7232155	1.00[EUR][1000 genomes]
rs73384215	1.00[EUR][1000 genomes]
rs73384258	1.00[EUR][1000 genomes]
rs73384260	1.00[EUR][1000 genomes]
rs73384266	1.00[EUR][1000 genomes]
rs73384296	1.00[EUR][1000 genomes]
rs73939446	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939462	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939467	0.86[AFR][1000 genomes]
rs9946242	1.00[EUR][1000 genomes]
rs9948640	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv909361	chr18:8364598-8446393	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8352600-8372600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr18:8355200-8378200	Weak transcription	Gastric	stomach
3	chr18:8358400-8378200	Weak transcription	HepG2	liver
4	chr18:8363200-8369000	Enhancers	Fetal Heart	heart
5	chr18:8364200-8375800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:8365400-8378200	Weak transcription	Colon Smooth Muscle	Colon
7	chr18:8366200-8370800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:8366600-8375200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr18:8367400-8369800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:8367400-8371400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:8367600-8368400	Weak transcription	HSMMtube	muscle
12	chr18:8367600-8369400	Enhancers	A549	lung
13	chr18:8367600-8370000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr18:8367600-8370200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr18:8367600-8370400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr18:8367600-8375800	Weak transcription	Lung	lung
17	chr18:8367600-8376400	Weak transcription	Right Ventricle	heart
18	chr18:8367600-8377800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr18:8367600-8378000	Weak transcription	Pancreas	Pancrea
20	chr18:8367600-8378200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:8367600-8378200	Weak transcription	Spleen	Spleen
22	chr18:8367600-8378400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr18:8367600-8378600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr18:8367600-8378800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:8367600-8380800	Weak transcription	NH-A	brain
26	chr18:8367600-8394600	Weak transcription	Small Intestine	intestine
27	chr18:8367800-8368600	Weak transcription	Osteobl	bone
28	chr18:8367800-8368800	Weak transcription	Ovary	ovary
29	chr18:8367800-8370400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr18:8367800-8371000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr18:8367800-8371400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr18:8367800-8371400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr18:8367800-8372800	Weak transcription	Fetal Brain Female	brain
34	chr18:8367800-8373200	Weak transcription	Adipose Nuclei	Adipose
35	chr18:8367800-8373200	Weak transcription	Left Ventricle	heart
36	chr18:8367800-8375200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr18:8367800-8375400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr18:8367800-8376400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr18:8367800-8378000	Weak transcription	Aorta	Aorta
40	chr18:8367800-8378000	Weak transcription	Brain Hippocampus Middle	brain
41	chr18:8367800-8378200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr18:8367800-8378200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr18:8367800-8378200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr18:8367800-8378400	Weak transcription	Brain Anterior Caudate	brain
45	chr18:8367800-8378400	Weak transcription	Fetal Thymus	thymus
46	chr18:8367800-8378600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr18:8367800-8378600	Weak transcription	Thymus	Thymus
48	chr18:8367800-8378800	Weak transcription	Placenta	Placenta
49	chr18:8367800-8379400	Weak transcription	Psoas Muscle	Psoas
50	chr18:8367800-8380200	Weak transcription	Liver	Liver

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