Variant report

Variant	rs28763953
Chromosome Location	chr5:127730778-127730779
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56073115	0.81[AMR][1000 genomes]
rs72785137	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs72785144	0.81[AMR][1000 genomes]
rs72785147	0.81[AMR][1000 genomes]
rs72785149	0.81[AMR][1000 genomes]
rs72785152	0.81[AMR][1000 genomes]
rs72785168	1.00[AFR][1000 genomes]
rs764371	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
2	chr5:127675600-127742200	Weak transcription	Fetal Intestine Small	intestine
3	chr5:127679200-127731200	Weak transcription	Right Ventricle	heart
4	chr5:127686000-127738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:127686000-127742000	Weak transcription	A549	lung
6	chr5:127695200-127737800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:127696800-127738200	Weak transcription	Fetal Lung	lung
8	chr5:127704800-127741800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:127705800-127731200	Weak transcription	Left Ventricle	heart
10	chr5:127714600-127743000	Weak transcription	HMEC	breast
11	chr5:127716600-127744800	Weak transcription	Fetal Kidney	kidney
12	chr5:127720000-127739000	Weak transcription	NHEK	skin
13	chr5:127723600-127732200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:127724200-127738600	Weak transcription	Fetal Brain Female	brain
15	chr5:127724400-127735200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:127724800-127731800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:127725400-127738400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:127725400-127743000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:127725600-127730800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:127725600-127743800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:127725800-127738600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:127725800-127739000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:127725800-127743400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:127725800-127765600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr5:127726000-127730800	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:127726000-127745000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:127726200-127739200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:127726800-127731200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:127726800-127732800	Strong transcription	Placenta	Placenta
30	chr5:127727800-127736200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:127727800-127740600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:127728000-127732200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:127728400-127741800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:127728400-127744200	Weak transcription	NH-A	brain
35	chr5:127728800-127732200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:127729000-127742200	Weak transcription	Ovary	ovary
37	chr5:127729200-127740600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr5:127729600-127736800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:127730200-127732400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:127730400-127731800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:127730600-127730800	Enhancers	Fetal Heart	heart
42	chr5:127730600-127731200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:127730600-127731800	Strong transcription	Fetal Stomach	stomach

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