Variant report

Variant	rs553487151
Chromosome Location	chr5:127747312-127747313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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	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
2	nsv599698	chr5:127744825-127850855	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv1015650	chr5:127745955-127866566	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	esv2763497	chr5:127745955-127882468	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127725800-127765600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
3	chr5:127739400-127759800	Weak transcription	Fetal Lung	lung
4	chr5:127740800-127759600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:127741000-127751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:127743000-127749200	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:127743000-127760400	Weak transcription	A549	lung
8	chr5:127743400-127771800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:127744400-127762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:127745200-127773800	Weak transcription	Right Ventricle	heart
11	chr5:127745400-127756600	Weak transcription	Fetal Kidney	kidney
12	chr5:127745600-127747400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:127746000-127748200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:127746000-127748400	Weak transcription	NH-A	brain
15	chr5:127746000-127754600	Weak transcription	Hela-S3	cervix
16	chr5:127746000-127777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:127746200-127748400	Weak transcription	HUVEC	blood vessel
18	chr5:127746200-127748800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:127746200-127749000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:127746200-127750200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:127746400-127749800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:127746600-127747400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr5:127746600-127747600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:127746800-127747400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:127746800-127747400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:127746800-127747400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:127746800-127747600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:127746800-127747600	Strong transcription	Placenta	Placenta
29	chr5:127746800-127748400	Weak transcription	Fetal Heart	heart
30	chr5:127747000-127747400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:127747000-127747400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:127747000-127749600	Weak transcription	NHEK	skin
33	chr5:127747200-127747400	Genic enhancers	Fetal Stomach	stomach

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