Variant report

Variant	rs34490055
Chromosome Location	chr5:127743694-127743695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1561005	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35318989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35581777	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
2	chr5:127716600-127744800	Weak transcription	Fetal Kidney	kidney
3	chr5:127725600-127743800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:127725800-127765600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:127726000-127745000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:127728400-127744200	Weak transcription	NH-A	brain
7	chr5:127731400-127747000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:127733200-127744400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:127733800-127744200	Weak transcription	Right Ventricle	heart
10	chr5:127736400-127745000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:127739200-127744800	Weak transcription	HUVEC	blood vessel
12	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
13	chr5:127739400-127759800	Weak transcription	Fetal Lung	lung
14	chr5:127739600-127744200	Weak transcription	Fetal Brain Male	brain
15	chr5:127739800-127744600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:127740000-127743800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:127740000-127744400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:127740200-127744400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:127740200-127744400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:127740400-127744400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:127740800-127744400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:127740800-127759600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:127741000-127744400	Strong transcription	Placenta	Placenta
24	chr5:127741000-127751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:127741400-127744600	Weak transcription	NHEK	skin
26	chr5:127741800-127744400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:127742200-127744600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:127742200-127744600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:127742200-127744600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:127742600-127743800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr5:127742600-127745800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:127742600-127746000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:127742800-127744400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:127743000-127743800	Weak transcription	Fetal Heart	heart
35	chr5:127743000-127744400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:127743000-127744600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:127743000-127744600	Strong transcription	HMEC	breast
38	chr5:127743000-127745600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:127743000-127745600	Weak transcription	NHLF	lung
40	chr5:127743000-127749200	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:127743000-127760400	Weak transcription	A549	lung
42	chr5:127743200-127743800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr5:127743200-127746800	Weak transcription	Fetal Stomach	stomach
44	chr5:127743400-127744200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:127743400-127744400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr5:127743400-127771800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr5:127743600-127744000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:127743600-127744200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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