Variant report

Variant	rs13175820
Chromosome Location	chr5:124820524-124820525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1026448	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11742189	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13186218	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13340392	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17152867	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17152869	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2061328	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67258935	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6876182	0.81[AFR][1000 genomes]
rs6880987	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6883648	0.81[ASN][1000 genomes]
rs6895537	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv882824	chr5:124789500-124875058	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124815800-124821600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:124816400-124822600	Enhancers	Fetal Brain Male	brain
3	chr5:124817800-124820600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:124819000-124820600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:124819000-124820600	Enhancers	HSMMtube	muscle
6	chr5:124819000-124823400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:124819200-124821200	Enhancers	Colon Smooth Muscle	Colon
8	chr5:124819400-124820600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:124819400-124820600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:124819400-124821800	Enhancers	Fetal Muscle Leg	muscle
11	chr5:124819400-124822600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:124819400-124822600	Enhancers	Brain Germinal Matrix	brain
13	chr5:124819400-124822600	Enhancers	Brain Substantia Nigra	brain
14	chr5:124819400-124822600	Enhancers	Fetal Brain Female	brain
15	chr5:124819400-124823400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:124819400-124823400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:124819400-124823400	Enhancers	Brain Cingulate Gyrus	brain
18	chr5:124819400-124823400	Enhancers	Fetal Stomach	stomach
19	chr5:124819600-124820600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:124819600-124820600	Enhancers	Rectal Smooth Muscle	rectum
21	chr5:124819600-124820600	Enhancers	Stomach Smooth Muscle	stomach
22	chr5:124819600-124821000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:124819600-124821400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr5:124819600-124821400	Enhancers	Ovary	ovary
25	chr5:124819600-124821600	Flanking Active TSS	NH-A	brain
26	chr5:124819600-124822200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr5:124819600-124823200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:124819600-124823400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:124819600-124823400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:124819800-124820600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:124819800-124820600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:124819800-124820600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr5:124819800-124820600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:124819800-124820800	Flanking Active TSS	NHDF-Ad	bronchial
35	chr5:124819800-124821600	Flanking Active TSS	HUVEC	blood vessel
36	chr5:124819800-124821800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr5:124819800-124823200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr5:124820000-124820600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr5:124820000-124820800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr5:124820000-124820800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr5:124820000-124821000	Enhancers	Right Atrium	heart
42	chr5:124820000-124821200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:124820000-124821400	Enhancers	Psoas Muscle	Psoas
44	chr5:124820000-124821600	Enhancers	Fetal Intestine Small	intestine
45	chr5:124820000-124822400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr5:124820000-124822400	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr5:124820000-124823200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr5:124820200-124820600	Weak transcription	Fetal Intestine Large	intestine
49	chr5:124820200-124820800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:124820200-124820800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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