Variant report

Variant	rs1477956
Chromosome Location	chr8:54435227-54435228
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10095702	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10958370	0.82[ASN][1000 genomes]
rs1477957	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17361507	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1904072	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6473839	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6473840	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6473842	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7004273	0.86[ASN][1000 genomes]
rs7812717	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7829521	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[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	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1477956	RP11-1081M5.1	cis	Artery Tibial	GTEx
rs1477956	RP11-1081M5.1	cis	Artery Aorta	GTEx
rs1477956	RP11-1081M5.2	cis	Artery Tibial	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54419200-54436200	Weak transcription	Pancreas	Pancrea
2	chr8:54427800-54436200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:54430600-54436000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:54433400-54436400	Flanking Active TSS	Osteobl	bone
5	chr8:54433400-54437000	Active TSS	Right Ventricle	heart
6	chr8:54433400-54437200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:54433600-54435400	Flanking Active TSS	NH-A	brain
8	chr8:54433600-54435600	Active TSS	Stomach Smooth Muscle	stomach
9	chr8:54433600-54436000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:54433600-54436000	Active TSS	Left Ventricle	heart
11	chr8:54433600-54437000	Active TSS	Aorta	Aorta
12	chr8:54433800-54436200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:54433800-54436600	Active TSS	Fetal Thymus	thymus
14	chr8:54433800-54437200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr8:54433800-54437400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr8:54434000-54435800	Active TSS	HSMM	muscle
17	chr8:54434000-54437000	Active TSS	Ovary	ovary
18	chr8:54434200-54436000	Active TSS	Colon Smooth Muscle	Colon
19	chr8:54434200-54437000	Flanking Active TSS	HMEC	breast
20	chr8:54434200-54437600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr8:54434400-54436000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:54434400-54436000	Weak transcription	A549	lung
23	chr8:54434400-54436200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:54434400-54436200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:54434400-54436200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:54434400-54436800	Active TSS	Rectal Smooth Muscle	rectum
27	chr8:54434400-54436800	Active TSS	Right Atrium	heart
28	chr8:54434400-54437400	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr8:54434600-54435400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:54434600-54435400	Enhancers	HUVEC	blood vessel
31	chr8:54434600-54435400	Flanking Active TSS	NHEK	skin
32	chr8:54434600-54435600	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr8:54434600-54435800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:54434600-54435800	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr8:54434600-54436000	Active TSS	Duodenum Mucosa	Duodenum
36	chr8:54434600-54436400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:54434600-54436600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:54434600-54436600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:54434600-54437000	Active TSS	NHLF	lung
40	chr8:54434600-54437400	Active TSS	Brain Hippocampus Middle	brain
41	chr8:54434800-54435400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:54434800-54435400	Enhancers	Lung	lung
43	chr8:54434800-54435400	Active TSS	Psoas Muscle	Psoas
44	chr8:54434800-54435600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr8:54434800-54435600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:54434800-54435600	Enhancers	Gastric	stomach
47	chr8:54434800-54435800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:54434800-54435800	Enhancers	Esophagus	oesophagus
49	chr8:54434800-54435800	Enhancers	Fetal Brain Male	brain
50	chr8:54434800-54436000	Active TSS	Rectal Mucosa Donor 31	rectum

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