Variant report

Variant	rs13439440
Chromosome Location	chr8:54434997-54434998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10095837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11992458	0.97[ASN][1000 genomes]
rs2376143	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28587342	0.97[ASN][1000 genomes]
rs28649694	0.97[ASN][1000 genomes]
rs28664823	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

No data

Chromatin state (count:74 , 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	chr8:54428200-54435000	Weak transcription	Fetal Stomach	stomach
4	chr8:54428800-54435200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:54430600-54436000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:54433400-54435200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:54433400-54436400	Flanking Active TSS	Osteobl	bone
8	chr8:54433400-54437000	Active TSS	Right Ventricle	heart
9	chr8:54433400-54437200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:54433600-54435400	Flanking Active TSS	NH-A	brain
11	chr8:54433600-54435600	Active TSS	Stomach Smooth Muscle	stomach
12	chr8:54433600-54436000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:54433600-54436000	Active TSS	Left Ventricle	heart
14	chr8:54433600-54437000	Active TSS	Aorta	Aorta
15	chr8:54433800-54435000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:54433800-54435200	Active TSS	Fetal Heart	heart
17	chr8:54433800-54435200	Enhancers	Stomach Mucosa	stomach
18	chr8:54433800-54436200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:54433800-54436600	Active TSS	Fetal Thymus	thymus
20	chr8:54433800-54437200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr8:54433800-54437400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr8:54434000-54435800	Active TSS	HSMM	muscle
23	chr8:54434000-54437000	Active TSS	Ovary	ovary
24	chr8:54434200-54435000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:54434200-54436000	Active TSS	Colon Smooth Muscle	Colon
26	chr8:54434200-54437000	Flanking Active TSS	HMEC	breast
27	chr8:54434200-54437600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr8:54434400-54435000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:54434400-54436000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:54434400-54436000	Weak transcription	A549	lung
31	chr8:54434400-54436200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:54434400-54436200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:54434400-54436200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:54434400-54436800	Active TSS	Rectal Smooth Muscle	rectum
35	chr8:54434400-54436800	Active TSS	Right Atrium	heart
36	chr8:54434400-54437400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr8:54434600-54435200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:54434600-54435400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:54434600-54435400	Enhancers	HUVEC	blood vessel
40	chr8:54434600-54435400	Flanking Active TSS	NHEK	skin
41	chr8:54434600-54435600	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr8:54434600-54435800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:54434600-54435800	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr8:54434600-54436000	Active TSS	Duodenum Mucosa	Duodenum
45	chr8:54434600-54436400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr8:54434600-54436600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:54434600-54436600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:54434600-54437000	Active TSS	NHLF	lung
49	chr8:54434600-54437400	Active TSS	Brain Hippocampus Middle	brain
50	chr8:54434800-54435000	Enhancers	HUES6 Cell Line	embryonic stem cell

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