Variant report

Variant	rs2289685
Chromosome Location	chr18:7949828-7949829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10083946	1.00[AMR][1000 genomes]
rs10084009	1.00[AMR][1000 genomes]
rs12326060	1.00[AMR][1000 genomes]
rs12326506	1.00[AMR][1000 genomes]
rs57007178	0.91[ASN][1000 genomes]
rs58209325	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59782869	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73383811	0.91[ASN][1000 genomes]
rs73383815	0.91[ASN][1000 genomes]
rs73383816	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73383819	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73383830	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73383831	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73383833	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73383834	0.91[ASN][1000 genomes]
rs9955279	0.91[ASN][1000 genomes]
rs9956344	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9962439	1.00[ASN][1000 genomes]
rs9966320	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7932200-7961000	Weak transcription	HepG2	liver
2	chr18:7937600-7955200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr18:7941400-7955000	Weak transcription	Psoas Muscle	Psoas
4	chr18:7941800-7966400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:7942000-7955200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr18:7942000-7955200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr18:7942200-7955200	Weak transcription	Fetal Muscle Leg	muscle
8	chr18:7945600-7950400	Weak transcription	Left Ventricle	heart
9	chr18:7946200-7958200	Weak transcription	Aorta	Aorta
10	chr18:7946800-7955000	Weak transcription	Fetal Lung	lung
11	chr18:7947000-7952400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr18:7947000-7954200	Weak transcription	Fetal Kidney	kidney
13	chr18:7947200-7950200	Weak transcription	Stomach Mucosa	stomach
14	chr18:7947200-7950800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr18:7947200-7955600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr18:7947200-7955800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr18:7947200-7958200	Weak transcription	Colon Smooth Muscle	Colon
18	chr18:7947200-7981400	Weak transcription	Fetal Stomach	stomach
19	chr18:7947400-7950000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr18:7947400-7950200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:7947400-7950400	Weak transcription	Fetal Intestine Small	intestine
22	chr18:7947400-7950400	Weak transcription	Osteobl	bone
23	chr18:7947400-7950600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:7947400-7950800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:7947400-7955400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr18:7947400-7958200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr18:7947400-7958400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:7947400-7959200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr18:7947400-7963400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr18:7947400-7963600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:7947400-7965600	Weak transcription	Thymus	Thymus
32	chr18:7947600-7950600	Enhancers	Hela-S3	cervix
33	chr18:7947600-7950600	Weak transcription	NHDF-Ad	bronchial
34	chr18:7947600-7955400	Weak transcription	Brain Angular Gyrus	brain
35	chr18:7947600-7956600	Weak transcription	Brain Hippocampus Middle	brain
36	chr18:7947600-7958200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr18:7947800-7950200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr18:7947800-7950200	Weak transcription	HMEC	breast
39	chr18:7947800-7950200	Weak transcription	NHEK	skin
40	chr18:7947800-7950600	Weak transcription	HUVEC	blood vessel
41	chr18:7947800-7950600	Weak transcription	NH-A	brain
42	chr18:7947800-7950800	Weak transcription	Placenta	Placenta
43	chr18:7947800-7951400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr18:7947800-7954000	Weak transcription	NHLF	lung
45	chr18:7947800-7955200	Weak transcription	Right Atrium	heart
46	chr18:7947800-7955200	Weak transcription	Right Ventricle	heart
47	chr18:7947800-7957000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr18:7947800-7957400	Weak transcription	Spleen	Spleen
49	chr18:7947800-7958400	Weak transcription	Brain Anterior Caudate	brain
50	chr18:7947800-7958400	Weak transcription	Gastric	stomach

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