Variant report

Variant	rs535126072
Chromosome Location	chr1:47272151-47272152
allele	C/G
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	STAT3	chr1:47272071-47272853	MCF10A-Er-Src	breast:	n/a	chr1:47272568-47272576
2	POLR2A	chr1:47272080-47272441	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr1:47271876-47272877	MCF10A-Er-Src	breast:	n/a	chr1:47272599-47272615
4	POLR2A	chr1:47271497-47272686	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr1:47272110-47272702	MCF10A-Er-Src	breast:	n/a	chr1:47272568-47272576
6	CTCF	chr1:47272077-47272151	Kidney_OC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47263957..47267463-chr1:47271063..47272982,3	MCF-7	breast:

Variant related genes	Relation type
CYP4B1	TF binding region
ENSG00000142973	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1011086	chr1:47259078-47305191	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv870792	chr1:47259138-47272185	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv870538	chr1:47259138-47309265	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1010063	chr1:47264205-47285118	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv546165	chr1:47266590-47272785	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1004143	chr1:47270942-47321982	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47265600-47279200	Weak transcription	Gastric	stomach
2	chr1:47266400-47273800	Enhancers	Placenta	Placenta
3	chr1:47267800-47273000	Enhancers	Esophagus	oesophagus
4	chr1:47267800-47273600	Enhancers	Lung	lung
5	chr1:47268400-47273600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:47269800-47272400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr1:47269800-47273600	Enhancers	Left Ventricle	heart
8	chr1:47270600-47273600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr1:47271200-47273000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:47271200-47273000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr1:47271200-47273200	Weak transcription	Right Ventricle	heart
12	chr1:47271400-47273600	Enhancers	Fetal Muscle Trunk	muscle
13	chr1:47271400-47273800	Enhancers	Fetal Intestine Small	intestine
14	chr1:47271600-47272400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr1:47271600-47273000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:47271600-47273800	Enhancers	Fetal Intestine Large	intestine
17	chr1:47271800-47272200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:47271800-47272200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:47271800-47272200	Enhancers	Brain Anterior Caudate	brain
20	chr1:47271800-47273400	Enhancers	Spleen	Spleen
21	chr1:47271800-47273600	Enhancers	Fetal Muscle Leg	muscle
22	chr1:47272000-47272200	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr1:47272000-47272200	Flanking Active TSS	Right Atrium	heart
24	chr1:47272000-47272200	Enhancers	Stomach Mucosa	stomach
25	chr1:47272000-47272200	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr1:47272000-47272400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:47272000-47272400	Enhancers	Hela-S3	cervix
28	chr1:47272000-47272400	Enhancers	HMEC	breast
29	chr1:47272000-47273200	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:47272000-47273400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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