Variant report

Variant	rs73939412
Chromosome Location	chr18:8251946-8251947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16952983	1.00[EUR][1000 genomes]
rs28671298	1.00[EUR][1000 genomes]
rs73941031	1.00[EUR][1000 genomes]
rs8093151	1.00[EUR][1000 genomes]
rs9956824	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1057288	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv543639	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1055995	chr18:8222469-8271135	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr18:8211600-8265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr18:8217800-8257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr18:8227000-8253200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:8227200-8255000	Weak transcription	A549	lung
6	chr18:8227400-8254000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr18:8230200-8254200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:8231400-8265000	Weak transcription	Pancreas	Pancrea
9	chr18:8233200-8253200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:8235000-8260400	Weak transcription	Psoas Muscle	Psoas
11	chr18:8239600-8253200	Weak transcription	Right Ventricle	heart
12	chr18:8239600-8264000	Weak transcription	HepG2	liver
13	chr18:8241200-8263600	Weak transcription	Fetal Lung	lung
14	chr18:8242200-8252000	Weak transcription	Colon Smooth Muscle	Colon
15	chr18:8242200-8252400	Weak transcription	Fetal Brain Female	brain
16	chr18:8242400-8254800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr18:8242400-8260600	Weak transcription	Brain Hippocampus Middle	brain
18	chr18:8242400-8261000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr18:8242400-8264000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:8242600-8253000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:8242600-8254000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr18:8242600-8260600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:8243400-8263000	Weak transcription	Gastric	stomach
24	chr18:8243800-8252800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:8244000-8260400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr18:8244400-8255600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr18:8244600-8254600	Weak transcription	Liver	Liver
28	chr18:8245000-8258200	Weak transcription	Spleen	Spleen
29	chr18:8245200-8262800	Weak transcription	Fetal Thymus	thymus
30	chr18:8245400-8252400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr18:8245400-8253000	Weak transcription	Fetal Muscle Leg	muscle
32	chr18:8245400-8253200	Weak transcription	Fetal Heart	heart
33	chr18:8245400-8253200	Weak transcription	Fetal Stomach	stomach
34	chr18:8245400-8254000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr18:8245400-8254400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr18:8245400-8260000	Weak transcription	Ovary	ovary
37	chr18:8245400-8272000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:8245400-8288600	Weak transcription	Aorta	Aorta
39	chr18:8245600-8260200	Weak transcription	Thymus	Thymus
40	chr18:8246600-8259600	Weak transcription	NHEK	skin
41	chr18:8246800-8274000	Weak transcription	Hela-S3	cervix
42	chr18:8247400-8254800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr18:8247400-8263000	Weak transcription	HMEC	breast
44	chr18:8247800-8260200	Weak transcription	Primary T cells from cord blood	blood
45	chr18:8248400-8252400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr18:8248800-8253000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr18:8248800-8253200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:8248800-8253400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr18:8249000-8252800	Weak transcription	HSMMtube	muscle
50	chr18:8249000-8253200	Weak transcription	Left Ventricle	heart

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