Variant report

Variant	rs551927053
Chromosome Location	chr2:64575875-64575876
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	FOSL1	chr2:64575760-64576493	HCT-116	colon:	n/a	chr2:64576077-64576089 chr2:64576079-64576087 chr2:64576078-64576089
2	JUND	chr2:64575754-64576434	HCT-116	colon:	n/a	chr2:64576077-64576089 chr2:64576079-64576087 chr2:64576078-64576089
3	SP1	chr2:64575755-64576441	HCT-116	colon:	n/a	chr2:64576143-64576150
4	POLR2A	chr2:64575413-64576137	H1-neurons	neurons:	n/a	n/a
5	SP1	chr2:64575730-64576427	HCT-116	colon:	n/a	chr2:64576143-64576150
6	FOSL1	chr2:64575718-64576284	HCT-116	colon:	n/a	chr2:64576077-64576089 chr2:64576079-64576087 chr2:64576078-64576089
7	JUND	chr2:64575700-64576435	HCT-116	colon:	n/a	chr2:64576077-64576089 chr2:64576079-64576087 chr2:64576078-64576089
8	POLR2A	chr2:64575443-64575987	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000236148	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	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005492	chr2:64452441-64588323	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
5	nsv874238	chr2:64575738-64614241	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64572600-64581800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:64573800-64576000	Weak transcription	A549	lung
3	chr2:64575000-64576400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:64575200-64576600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:64575400-64576000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:64575400-64576000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:64575400-64576200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:64575400-64576200	Enhancers	NH-A	brain
9	chr2:64575400-64576400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:64575400-64576600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:64575400-64576800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:64575400-64576800	Enhancers	NHLF	lung
13	chr2:64575600-64576200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:64575600-64576400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:64575600-64576600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:64575600-64576600	Enhancers	NHDF-Ad	bronchial
17	chr2:64575600-64576600	Enhancers	NHEK	skin
18	chr2:64575800-64576000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:64575800-64576000	Enhancers	Spleen	Spleen
20	chr2:64575800-64576200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:64575800-64576400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:64575800-64576400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:64575800-64576400	Enhancers	HMEC	breast
24	chr2:64575800-64576600	Enhancers	Fetal Muscle Leg	muscle

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