Variant report

Variant	rs71519494
Chromosome Location	chr8:58926800-58926801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13263290	0.98[EUR][1000 genomes]
rs13271679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16922941	0.98[EUR][1000 genomes]
rs17239283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17239590	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17835765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34040020	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35055955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35160448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35338825	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35623322	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35719782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6991555	0.98[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58908400-58928800	Weak transcription	Esophagus	oesophagus
2	chr8:58908400-58929000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:58908600-58942800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:58908800-58929200	Weak transcription	Brain Substantia Nigra	brain
5	chr8:58909400-58928800	Weak transcription	Fetal Intestine Large	intestine
6	chr8:58909400-58943000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:58913400-58929000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:58914200-58929000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:58916400-58929000	Weak transcription	NHDF-Ad	bronchial
10	chr8:58916400-58929200	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:58916400-58934600	Weak transcription	Brain Anterior Caudate	brain
12	chr8:58916600-58929000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:58916600-58929200	Weak transcription	Osteobl	bone
14	chr8:58916800-58928800	Weak transcription	Psoas Muscle	Psoas
15	chr8:58916800-58929200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:58917000-58927200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:58917600-58928000	Weak transcription	Fetal Intestine Small	intestine
18	chr8:58918400-58927000	Strong transcription	Fetal Stomach	stomach
19	chr8:58920000-58929000	Weak transcription	Pancreas	Pancrea
20	chr8:58920400-58928800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:58920600-58926800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:58920600-58929000	Weak transcription	Stomach Mucosa	stomach
23	chr8:58921600-58927400	Weak transcription	Fetal Kidney	kidney
24	chr8:58921600-58934200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:58921800-58928800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:58921800-58937400	Weak transcription	HSMMtube	muscle
27	chr8:58922000-58928800	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:58923400-58929000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:58923400-58937200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:58923600-58926800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr8:58924400-58927800	Enhancers	Right Atrium	heart
32	chr8:58924400-58928600	Weak transcription	Liver	Liver
33	chr8:58924400-58946400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:58924600-58929000	Weak transcription	Adipose Nuclei	Adipose
35	chr8:58924600-58929200	Weak transcription	Ovary	ovary
36	chr8:58925000-58928000	Enhancers	Fetal Heart	heart
37	chr8:58925200-58927200	Enhancers	Left Ventricle	heart
38	chr8:58925400-58926800	Genic enhancers	Brain Germinal Matrix	brain
39	chr8:58925400-58926800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr8:58925400-58927000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:58925400-58927000	Genic enhancers	Fetal Muscle Leg	muscle
42	chr8:58925400-58927200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:58925400-58927200	Enhancers	Right Ventricle	heart
44	chr8:58925800-58926800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:58926000-58926800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:58926000-58927200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr8:58926000-58927200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:58926200-58926800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:58926200-58926800	Genic enhancers	Spleen	Spleen
50	chr8:58926200-58927000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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