Variant report

Variant	rs550241006
Chromosome Location	chr5:127746495-127746496
allele	A/G
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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127725800-127765600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:127731400-127747000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
4	chr5:127739400-127759800	Weak transcription	Fetal Lung	lung
5	chr5:127740800-127759600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:127741000-127751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:127743000-127749200	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:127743000-127760400	Weak transcription	A549	lung
9	chr5:127743200-127746800	Weak transcription	Fetal Stomach	stomach
10	chr5:127743400-127771800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:127744400-127746800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:127744400-127746800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:127744400-127746800	Enhancers	Fetal Heart	heart
14	chr5:127744400-127746800	Weak transcription	Placenta	Placenta
15	chr5:127744400-127747200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:127744400-127762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:127744600-127746600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr5:127744600-127746800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:127744600-127747000	Enhancers	NHEK	skin
20	chr5:127745200-127773800	Weak transcription	Right Ventricle	heart
21	chr5:127745400-127756600	Weak transcription	Fetal Kidney	kidney
22	chr5:127745600-127747400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:127746000-127746600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:127746000-127746800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:127746000-127748200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:127746000-127748400	Weak transcription	NH-A	brain
27	chr5:127746000-127754600	Weak transcription	Hela-S3	cervix
28	chr5:127746000-127777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:127746200-127748400	Weak transcription	HUVEC	blood vessel
30	chr5:127746200-127748800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:127746200-127749000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:127746200-127750200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:127746400-127746800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:127746400-127749800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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