Variant report

Variant	rs73939466
Chromosome Location	chr18:8375533-8375534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73939446	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939447	1.00[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]
rs73939467	0.86[AFR][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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8355200-8378200	Weak transcription	Gastric	stomach
2	chr18:8358400-8378200	Weak transcription	HepG2	liver
3	chr18:8364200-8375800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr18:8365400-8378200	Weak transcription	Colon Smooth Muscle	Colon
5	chr18:8367600-8375800	Weak transcription	Lung	lung
6	chr18:8367600-8376400	Weak transcription	Right Ventricle	heart
7	chr18:8367600-8377800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr18:8367600-8378000	Weak transcription	Pancreas	Pancrea
9	chr18:8367600-8378200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:8367600-8378200	Weak transcription	Spleen	Spleen
11	chr18:8367600-8378400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr18:8367600-8378600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr18:8367600-8378800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:8367600-8380800	Weak transcription	NH-A	brain
15	chr18:8367600-8394600	Weak transcription	Small Intestine	intestine
16	chr18:8367800-8376400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr18:8367800-8378000	Weak transcription	Aorta	Aorta
18	chr18:8367800-8378000	Weak transcription	Brain Hippocampus Middle	brain
19	chr18:8367800-8378200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr18:8367800-8378200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr18:8367800-8378200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr18:8367800-8378400	Weak transcription	Brain Anterior Caudate	brain
23	chr18:8367800-8378400	Weak transcription	Fetal Thymus	thymus
24	chr18:8367800-8378600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr18:8367800-8378600	Weak transcription	Thymus	Thymus
26	chr18:8367800-8378800	Weak transcription	Placenta	Placenta
27	chr18:8367800-8379400	Weak transcription	Psoas Muscle	Psoas
28	chr18:8367800-8380200	Weak transcription	Liver	Liver
29	chr18:8367800-8380200	Weak transcription	HSMM	muscle
30	chr18:8367800-8381400	Weak transcription	Brain Substantia Nigra	brain
31	chr18:8367800-8382000	Weak transcription	Brain Germinal Matrix	brain
32	chr18:8367800-8382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:8367800-8385400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr18:8367800-8398600	Weak transcription	NHLF	lung
35	chr18:8368000-8378200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr18:8368000-8378400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr18:8368000-8394600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr18:8368000-8409000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr18:8368600-8378400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr18:8368800-8378200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr18:8368800-8378200	Weak transcription	Fetal Muscle Leg	muscle
42	chr18:8369000-8388000	Weak transcription	Fetal Heart	heart
43	chr18:8369200-8379200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr18:8369400-8378000	Weak transcription	A549	lung
45	chr18:8369800-8379600	Weak transcription	HSMMtube	muscle
46	chr18:8370000-8378000	Weak transcription	Fetal Intestine Large	intestine
47	chr18:8370200-8378000	Weak transcription	Ovary	ovary
48	chr18:8370600-8378400	Weak transcription	Primary T cells from cord blood	blood
49	chr18:8371200-8378400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr18:8372000-8408800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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