Variant report

Variant	rs567433124
Chromosome Location	chr5:127038837-127038838
allele	G/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	BATF	chr5:127038711-127038971	GM12878	blood:	n/a	n/a
2	REST	chr5:127038738-127039475	H1-neurons	neurons:	n/a	n/a
3	IKZF1	chr5:127038823-127039026	GM12878	blood:	n/a	n/a
4	BATF	chr5:127038753-127038978	GM12878	blood:	n/a	n/a

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:31 , 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	chr5:127038200-127039200	Enhancers	Rectal Smooth Muscle	rectum
14	chr5:127038200-127039800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:127038400-127039000	Flanking Active TSS	Left Ventricle	heart
16	chr5:127038400-127039200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:127038400-127039200	Enhancers	Right Ventricle	heart
18	chr5:127038400-127039400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:127038400-127039400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr5:127038400-127039600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:127038400-127039800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:127038400-127041600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:127038400-127041600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr5:127038400-127041800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:127038600-127039200	Active TSS	Right Atrium	heart
26	chr5:127038600-127039200	Enhancers	Stomach Smooth Muscle	stomach
27	chr5:127038600-127041800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:127038800-127039200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr5:127038800-127039600	Enhancers	Colon Smooth Muscle	Colon
30	chr5:127038800-127040000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:127038800-127041000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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