Variant report

Variant	rs56131649
Chromosome Location	chr5:127625559-127625560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1428633	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2042327	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	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
3	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127589000-127670200	Weak transcription	NHDF-Ad	bronchial
2	chr5:127592800-127631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:127593800-127635200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:127605200-127628800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:127608000-127629600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:127612800-127662400	Weak transcription	HUVEC	blood vessel
7	chr5:127614400-127635200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:127614600-127644800	Weak transcription	Ovary	ovary
9	chr5:127614600-127661000	Weak transcription	Fetal Kidney	kidney
10	chr5:127618000-127629400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:127618400-127629600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:127619400-127629400	Strong transcription	Placenta	Placenta
13	chr5:127620200-127626400	Strong transcription	Fetal Muscle Leg	muscle
14	chr5:127620200-127639600	Weak transcription	Osteobl	bone
15	chr5:127621200-127628600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:127621600-127625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:127621600-127626200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:127621600-127626600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:127621800-127627400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr5:127621800-127628600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:127622000-127628600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:127622000-127628800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:127622200-127625800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:127622200-127627800	Strong transcription	HMEC	breast
25	chr5:127622400-127626400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:127622400-127626400	Strong transcription	NHEK	skin
27	chr5:127622400-127629000	Strong transcription	Fetal Stomach	stomach
28	chr5:127622800-127628600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:127622800-127662000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr5:127623200-127625800	Weak transcription	NH-A	brain
31	chr5:127623600-127628800	Strong transcription	Fetal Heart	heart
32	chr5:127623800-127626200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:127624000-127626200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:127624400-127626200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:127624600-127625800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:127624600-127625800	Weak transcription	Left Ventricle	heart
37	chr5:127624600-127635200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:127624600-127663600	Weak transcription	A549	lung
39	chr5:127624800-127626000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:127624800-127626800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:127624800-127644000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:127624800-127648000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:127625000-127627800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:127625000-127628000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:127625000-127635400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:127625000-127635800	Weak transcription	Fetal Lung	lung
47	chr5:127625000-127662200	Weak transcription	Fetal Intestine Large	intestine
48	chr5:127625200-127626000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr5:127625400-127625800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:127625400-127635200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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