Variant report

Variant	rs146953029
Chromosome Location	chr5:127038589-127038590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF3	chr5:127038551-127038605	GM12878	blood:	n/a	n/a
2	CTCF	chr5:127038520-127038670	GM12869	blood:	n/a	n/a
3	CEBPB	chr5:127038487-127038760	HepG2	liver:	n/a	chr5:127038608-127038621 chr5:127038609-127038620
4	CEBPB	chr5:127038567-127038702	K562	blood:	n/a	chr5:127038608-127038621 chr5:127038609-127038620

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBN2-4	chr5:127038419-127038662	XLOC_004991

Variant related genes	Relation type
ENSG00000230561	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1798341	chr5:127038316-127061310	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127032800-127040800	Weak transcription	NHDF-Ad	bronchial
2	chr5:127033000-127040600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:127033000-127040600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:127033000-127041000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:127033800-127040600	Weak transcription	NHLF	lung
6	chr5:127034200-127040800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:127034200-127041000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:127035800-127039000	Weak transcription	A549	lung
9	chr5:127035800-127040600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:127035800-127041000	Weak transcription	Fetal Lung	lung
11	chr5:127035800-127041200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:127036400-127041000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:127038200-127038800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr5:127038200-127039200	Enhancers	Rectal Smooth Muscle	rectum
15	chr5:127038200-127039800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:127038400-127038600	Enhancers	Right Atrium	heart
17	chr5:127038400-127038800	Enhancers	Fetal Muscle Leg	muscle
18	chr5:127038400-127038800	Enhancers	Psoas Muscle	Psoas
19	chr5:127038400-127039000	Flanking Active TSS	Left Ventricle	heart
20	chr5:127038400-127039200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:127038400-127039200	Enhancers	Right Ventricle	heart
22	chr5:127038400-127039400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:127038400-127039400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr5:127038400-127039600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:127038400-127039800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:127038400-127041600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:127038400-127041600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr5:127038400-127041800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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