Variant report

Variant	rs73305365
Chromosome Location	chr5:124820824-124820825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10075091	1.00[EUR][1000 genomes]
rs1554281	1.00[EUR][1000 genomes]
rs56707415	1.00[EUR][1000 genomes]
rs56988571	1.00[EUR][1000 genomes]
rs57697012	1.00[EUR][1000 genomes]
rs59000628	1.00[EUR][1000 genomes]
rs59958060	1.00[EUR][1000 genomes]
rs60202964	1.00[EUR][1000 genomes]
rs61304237	1.00[EUR][1000 genomes]
rs61472360	1.00[EUR][1000 genomes]
rs6878929	1.00[EUR][1000 genomes]
rs6883449	1.00[EUR][1000 genomes]
rs6883628	1.00[EUR][1000 genomes]
rs6884059	1.00[EUR][1000 genomes]
rs73303332	1.00[EUR][1000 genomes]
rs73303384	1.00[EUR][1000 genomes]
rs73303399	1.00[EUR][1000 genomes]
rs73303400	1.00[EUR][1000 genomes]
rs73305305	1.00[EUR][1000 genomes]
rs73305308	1.00[EUR][1000 genomes]
rs73305320	1.00[EUR][1000 genomes]
rs73305337	1.00[EUR][1000 genomes]
rs73305339	1.00[EUR][1000 genomes]
rs73305342	1.00[EUR][1000 genomes]
rs73305345	1.00[EUR][1000 genomes]
rs73305368	1.00[EUR][1000 genomes]
rs73305401	1.00[EUR][1000 genomes]
rs73307316	1.00[EUR][1000 genomes]
rs73312635	1.00[EUR][1000 genomes]
rs73316199	1.00[EUR][1000 genomes]
rs73318103	1.00[EUR][1000 genomes]
rs73318104	1.00[EUR][1000 genomes]
rs7729817	1.00[EUR][1000 genomes]
rs7730445	1.00[EUR][1000 genomes]
rs7732317	1.00[EUR][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:90 , 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	chr5:124819000-124823400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:124819200-124821200	Enhancers	Colon Smooth Muscle	Colon
5	chr5:124819400-124821800	Enhancers	Fetal Muscle Leg	muscle
6	chr5:124819400-124822600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:124819400-124822600	Enhancers	Brain Germinal Matrix	brain
8	chr5:124819400-124822600	Enhancers	Brain Substantia Nigra	brain
9	chr5:124819400-124822600	Enhancers	Fetal Brain Female	brain
10	chr5:124819400-124823400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:124819400-124823400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:124819400-124823400	Enhancers	Brain Cingulate Gyrus	brain
13	chr5:124819400-124823400	Enhancers	Fetal Stomach	stomach
14	chr5:124819600-124821000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:124819600-124821400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr5:124819600-124821400	Enhancers	Ovary	ovary
17	chr5:124819600-124821600	Flanking Active TSS	NH-A	brain
18	chr5:124819600-124822200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr5:124819600-124823200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:124819600-124823400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:124819600-124823400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:124819800-124821600	Flanking Active TSS	HUVEC	blood vessel
23	chr5:124819800-124821800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr5:124819800-124823200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:124820000-124821000	Enhancers	Right Atrium	heart
26	chr5:124820000-124821200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:124820000-124821400	Enhancers	Psoas Muscle	Psoas
28	chr5:124820000-124821600	Enhancers	Fetal Intestine Small	intestine
29	chr5:124820000-124822400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr5:124820000-124822400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr5:124820000-124823200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:124820200-124821000	Flanking Active TSS	NHEK	skin
33	chr5:124820200-124821400	Enhancers	Fetal Heart	heart
34	chr5:124820200-124821800	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr5:124820200-124823400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:124820200-124823400	Enhancers	NHLF	lung
37	chr5:124820400-124821000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:124820400-124821000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:124820400-124821000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:124820400-124821000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:124820400-124821000	Flanking Active TSS	Fetal Lung	lung
42	chr5:124820400-124821000	Flanking Active TSS	Stomach Mucosa	stomach
43	chr5:124820400-124821000	Flanking Active TSS	HMEC	breast
44	chr5:124820400-124821200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:124820400-124821200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:124820400-124821200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:124820400-124821200	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr5:124820400-124821400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:124820400-124821400	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr5:124820400-124821400	Flanking Active TSS	Hela-S3	cervix

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