Variant report

Variant	rs12954076
Chromosome Location	chr18:8139769-8139770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs512522	0.84[EUR][1000 genomes]
rs565798	0.87[EUR][1000 genomes]
rs591062	0.85[EUR][1000 genomes]
rs618381	0.84[EUR][1000 genomes]
rs663105	0.84[EUR][1000 genomes]
rs687245	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8117400-8153200	Weak transcription	Liver	Liver
2	chr18:8121200-8145600	Weak transcription	Primary T cells from cord blood	blood
3	chr18:8122400-8157400	Weak transcription	Aorta	Aorta
4	chr18:8122400-8160400	Weak transcription	Thymus	Thymus
5	chr18:8125200-8141000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:8126800-8153200	Weak transcription	A549	lung
7	chr18:8133000-8144000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:8133200-8141000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:8135800-8143600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:8137200-8140200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:8137200-8141600	Enhancers	Left Ventricle	heart
12	chr18:8137400-8140400	Enhancers	Spleen	Spleen
13	chr18:8137400-8142600	Enhancers	Right Ventricle	heart
14	chr18:8137400-8153400	Weak transcription	Placenta	Placenta
15	chr18:8137800-8140400	Enhancers	K562	blood
16	chr18:8138000-8140400	Enhancers	Psoas Muscle	Psoas
17	chr18:8138200-8140400	Enhancers	Right Atrium	heart
18	chr18:8138200-8141200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr18:8138200-8142600	Enhancers	Ovary	ovary
20	chr18:8138400-8140200	Enhancers	Fetal Brain Male	brain
21	chr18:8138600-8140200	Enhancers	Fetal Muscle Leg	muscle
22	chr18:8139000-8140000	Enhancers	Fetal Heart	heart
23	chr18:8139000-8140600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr18:8139000-8158800	Weak transcription	Pancreas	Pancrea
25	chr18:8139200-8139800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr18:8139200-8140200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr18:8139200-8140200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr18:8139200-8140200	Enhancers	Stomach Smooth Muscle	stomach
29	chr18:8139200-8141200	Enhancers	Brain Anterior Caudate	brain
30	chr18:8139200-8141600	Enhancers	Colon Smooth Muscle	Colon
31	chr18:8139200-8141600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr18:8139200-8142600	Enhancers	HSMM	muscle
33	chr18:8139200-8142600	Enhancers	NHDF-Ad	bronchial
34	chr18:8139200-8143000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:8139200-8143000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr18:8139400-8139800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr18:8139400-8142600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr18:8139400-8143200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr18:8139600-8140000	Enhancers	Adipose Nuclei	Adipose
40	chr18:8139600-8140200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr18:8139600-8141000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr18:8139600-8141200	Weak transcription	Lung	lung
43	chr18:8139600-8141400	Enhancers	HSMMtube	muscle
44	chr18:8139600-8142200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr18:8139600-8142800	Enhancers	Osteobl	bone
46	chr18:8139600-8143800	Weak transcription	Fetal Lung	lung
47	chr18:8139600-8144000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr18:8139600-8144200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr18:8139600-8151000	Weak transcription	Fetal Stomach	stomach

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