Variant report

Variant	rs1477957
Chromosome Location	chr8:54435433-54435434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10095702	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958370	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10958371	0.87[CEU][hapmap]
rs1477956	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17361507	0.88[CEU][hapmap];0.83[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1904072	0.95[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6473839	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473840	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473842	0.88[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7004273	0.89[ASN][1000 genomes]
rs7812717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829521	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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
rs1477957	RP11-1081M5.2	cis	Artery Tibial	GTEx
rs1477957	RP11-1081M5.1	cis	Artery Tibial	GTEx
rs1477957	RP11-1081M5.1	cis	Artery Aorta	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	chr8:54433600-54435600	Active TSS	Stomach Smooth Muscle	stomach
8	chr8:54433600-54436000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:54433600-54436000	Active TSS	Left Ventricle	heart
10	chr8:54433600-54437000	Active TSS	Aorta	Aorta
11	chr8:54433800-54436200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:54433800-54436600	Active TSS	Fetal Thymus	thymus
13	chr8:54433800-54437200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr8:54433800-54437400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr8:54434000-54435800	Active TSS	HSMM	muscle
16	chr8:54434000-54437000	Active TSS	Ovary	ovary
17	chr8:54434200-54436000	Active TSS	Colon Smooth Muscle	Colon
18	chr8:54434200-54437000	Flanking Active TSS	HMEC	breast
19	chr8:54434200-54437600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr8:54434400-54436000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:54434400-54436000	Weak transcription	A549	lung
22	chr8:54434400-54436200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:54434400-54436200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:54434400-54436200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:54434400-54436800	Active TSS	Rectal Smooth Muscle	rectum
26	chr8:54434400-54436800	Active TSS	Right Atrium	heart
27	chr8:54434400-54437400	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr8:54434600-54435600	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr8:54434600-54435800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:54434600-54435800	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr8:54434600-54436000	Active TSS	Duodenum Mucosa	Duodenum
32	chr8:54434600-54436400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr8:54434600-54436600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:54434600-54436600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr8:54434600-54437000	Active TSS	NHLF	lung
36	chr8:54434600-54437400	Active TSS	Brain Hippocampus Middle	brain
37	chr8:54434800-54435600	Enhancers	H9 Cell Line	embryonic stem cell
38	chr8:54434800-54435600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:54434800-54435600	Enhancers	Gastric	stomach
40	chr8:54434800-54435800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:54434800-54435800	Enhancers	Esophagus	oesophagus
42	chr8:54434800-54435800	Enhancers	Fetal Brain Male	brain
43	chr8:54434800-54436000	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr8:54434800-54436200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr8:54434800-54436400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:54434800-54436400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr8:54434800-54436400	Flanking Active TSS	HSMMtube	muscle
48	chr8:54434800-54437000	Active TSS	Brain Anterior Caudate	brain
49	chr8:54434800-54437000	Active TSS	Colonic Mucosa	Colon
50	chr8:54435000-54435600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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