Variant report

Variant	rs7004271
Chromosome Location	chr8:59011319-59011320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10113596	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10551162	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13271022	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2017063	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34101827	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35251985	0.81[EUR][1000 genomes]
rs6471680	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471684	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7003275	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58989200-59014400	Weak transcription	Aorta	Aorta
2	chr8:59004800-59012400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:59008800-59011600	Enhancers	HepG2	liver
4	chr8:59009400-59020800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:59010200-59011400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:59010400-59011400	Enhancers	Fetal Brain Female	brain
7	chr8:59010400-59011400	Enhancers	Placenta	Placenta
8	chr8:59010400-59011400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr8:59010400-59011600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:59010400-59011600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:59010400-59011600	Enhancers	Fetal Muscle Leg	muscle
12	chr8:59010400-59011600	Enhancers	Lung	lung
13	chr8:59010400-59011600	Enhancers	Right Ventricle	heart
14	chr8:59010600-59011400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:59010600-59011400	Enhancers	GM12878-XiMat	blood
16	chr8:59010800-59011400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr8:59010800-59011400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:59010800-59011400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:59010800-59011400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr8:59010800-59011400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:59010800-59011400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:59010800-59011400	Enhancers	Brain Hippocampus Middle	brain
23	chr8:59010800-59011400	Flanking Active TSS	Left Ventricle	heart
24	chr8:59010800-59011600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr8:59010800-59011600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:59010800-59011600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:59010800-59011600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:59010800-59011600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:59010800-59011600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:59010800-59011600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr8:59010800-59011600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr8:59010800-59011600	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr8:59010800-59011600	Enhancers	Fetal Brain Male	brain
34	chr8:59010800-59011600	Enhancers	Fetal Kidney	kidney
35	chr8:59010800-59011600	Flanking Active TSS	Right Atrium	heart
36	chr8:59010800-59011800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:59011000-59011400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr8:59011000-59011400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:59011000-59011400	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr8:59011000-59011400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr8:59011000-59011400	Flanking Active TSS	Fetal Muscle Trunk	muscle
42	chr8:59011000-59011400	Enhancers	Ovary	ovary
43	chr8:59011000-59011400	Flanking Active TSS	Psoas Muscle	Psoas
44	chr8:59011000-59011400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr8:59011000-59011400	Active TSS	Stomach Smooth Muscle	stomach
46	chr8:59011000-59011400	Flanking Active TSS	Spleen	Spleen
47	chr8:59011000-59011400	Flanking Active TSS	Hela-S3	cervix
48	chr8:59011000-59011400	Flanking Active TSS	NH-A	brain
49	chr8:59011000-59011600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:59011000-59011600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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