Variant report

Variant	rs7714559
Chromosome Location	chr5:146764735-146764736
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:9)

rs_ID	r²[population]
rs10041375	0.82[EUR][1000 genomes]
rs37227	0.89[ASN][1000 genomes]
rs4235730	0.82[EUR][1000 genomes]
rs4235731	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705167	0.82[EUR][1000 genomes]
rs723698	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs744585	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs889829	0.81[EUR][1000 genomes]
rs9325041	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146750000-146766200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:146761800-146765800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:146762200-146764800	Active TSS	Ovary	ovary
4	chr5:146762400-146766200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:146762600-146766000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr5:146762800-146767600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:146762800-146767600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:146762800-146767600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:146762800-146767600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:146762800-146767800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:146762800-146770400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:146762800-146770400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:146762800-146770400	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:146762800-146770600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:146762800-146770600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:146762800-146770600	Weak transcription	Fetal Stomach	stomach
17	chr5:146762800-146771000	Weak transcription	NHLF	lung
18	chr5:146762800-146772200	Weak transcription	Adipose Nuclei	Adipose
19	chr5:146762800-146772200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:146762800-146772600	Weak transcription	Aorta	Aorta
21	chr5:146762800-146773200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:146762800-146773800	Weak transcription	Osteobl	bone
23	chr5:146762800-146775600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:146762800-146775600	Weak transcription	Placenta	Placenta
25	chr5:146762800-146775600	Weak transcription	Left Ventricle	heart
26	chr5:146762800-146775600	Weak transcription	Right Ventricle	heart
27	chr5:146762800-146783400	Weak transcription	Pancreas	Pancrea
28	chr5:146762800-146784200	Weak transcription	Colonic Mucosa	Colon
29	chr5:146763000-146767200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:146763000-146767400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:146763000-146767600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:146763000-146767800	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:146763000-146768000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:146763000-146770400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:146763000-146770800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:146763000-146771200	Weak transcription	NHDF-Ad	bronchial
37	chr5:146763000-146772600	Weak transcription	Brain Anterior Caudate	brain
38	chr5:146763000-146775000	Weak transcription	Fetal Intestine Small	intestine
39	chr5:146763000-146775200	Weak transcription	Right Atrium	heart
40	chr5:146763200-146770600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:146763400-146765400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:146763800-146764800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:146764200-146767200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:146764200-146769600	Weak transcription	NH-A	brain
45	chr5:146764400-146767200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:146764400-146767600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr5:146764400-146767600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:146764400-146772600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr5:146764400-146777400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:146764600-146765400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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