Variant report

Variant	rs58315443
Chromosome Location	chr5:124380835-124380836
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs4274974	1.00[AMR][1000 genomes]
rs57626669	0.91[AMR][1000 genomes]
rs58895107	0.90[AMR][1000 genomes]
rs60274458	0.80[AMR][1000 genomes]
rs60664342	0.91[AMR][1000 genomes]
rs73301682	0.90[AMR][1000 genomes]
rs73301689	0.90[AMR][1000 genomes]
rs73308764	0.80[AMR][1000 genomes]
rs7733073	0.91[AMR][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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv4984	chr5:124377028-124401500	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124376600-124382800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:124377400-124381000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:124377400-124381200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:124377600-124381200	Enhancers	Fetal Kidney	kidney
5	chr5:124377600-124381800	Enhancers	NHDF-Ad	bronchial
6	chr5:124377800-124381000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:124378000-124385600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:124378200-124384200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:124378400-124382200	Enhancers	HUVEC	blood vessel
10	chr5:124378600-124381600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:124378600-124383000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:124378800-124381600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:124379000-124381600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:124379000-124388200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:124379200-124381400	Enhancers	Fetal Brain Male	brain
16	chr5:124379200-124382800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:124379400-124381000	Enhancers	Fetal Muscle Leg	muscle
18	chr5:124380000-124381000	Enhancers	Small Intestine	intestine
19	chr5:124380000-124385600	Weak transcription	Stomach Mucosa	stomach
20	chr5:124380200-124381400	Enhancers	Hela-S3	cervix
21	chr5:124380400-124381400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:124380400-124382200	Enhancers	A549	lung
23	chr5:124380400-124382200	Enhancers	NH-A	brain
24	chr5:124380400-124384200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:124380400-124384800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:124380400-124385200	Weak transcription	Brain Anterior Caudate	brain
27	chr5:124380600-124381600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:124380600-124381600	Weak transcription	NHEK	skin
29	chr5:124380600-124382600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:124380600-124382600	Weak transcription	Left Ventricle	heart
31	chr5:124380600-124385000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:124380600-124388400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:124380800-124381000	Enhancers	HSMMtube	muscle
34	chr5:124380800-124381800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:124380800-124382400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:124380800-124382400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:124380800-124385000	Weak transcription	Osteobl	bone

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