Variant report

Variant	rs75476720
Chromosome Location	chr15:45438860-45438861
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	POLR2A	chr15:45438744-45439597	K562	blood:	n/a	n/a
2	POLR2A	chr15:45438432-45440451	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr15:45438606-45438936	IMR90	lung:	n/a	n/a
4	STAT3	chr15:45438721-45438921	MCF10A-Er-Src	breast:	n/a	chr15:45438796-45438807
5	CEBPB	chr15:45438712-45438912	HepG2	liver:	n/a	n/a
6	STAT3	chr15:45438678-45438908	MCF10A-Er-Src	breast:	n/a	chr15:45438796-45438807
7	GATA3	chr15:45438630-45438940	T-47D	breast:	n/a	n/a
8	JUND	chr15:45438743-45438974	HepG2	liver:	n/a	n/a
9	STAT3	chr15:45438717-45438865	MCF10A-Er-Src	breast:	n/a	chr15:45438796-45438807
10	POLR2A	chr15:45438736-45439051	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45435866..45441707-chr15:45442117..45446619,7	K562	blood:
2	chr15:45428900..45431530-chr15:45437116..45439567,2	K562	blood:

Variant related genes	Relation type
DUOX1	TF binding region
ENSG00000137857	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv457124	chr15:45381998-45460422	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv569312	chr15:45381998-45460422	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv569313	chr15:45413541-45457458	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv457125	chr15:45420718-45450323	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv569314	chr15:45420718-45450323	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv518213	chr15:45421758-45464768	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv520580	chr15:45438537-45457349	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
13	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 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	chr15:45426600-45440200	Weak transcription	HMEC	breast
2	chr15:45427600-45458600	Weak transcription	Right Atrium	heart
3	chr15:45428600-45444400	Weak transcription	Pancreas	Pancrea
4	chr15:45428600-45449000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:45429400-45443800	Weak transcription	Ovary	ovary
6	chr15:45430000-45441200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:45430200-45446200	Weak transcription	Brain Anterior Caudate	brain
8	chr15:45431400-45449000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr15:45431800-45442600	Weak transcription	Fetal Intestine Small	intestine
10	chr15:45434800-45457800	Weak transcription	Adipose Nuclei	Adipose
11	chr15:45435200-45444000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:45436400-45440000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:45436400-45444000	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:45438200-45439000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:45438200-45439000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:45438200-45439400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:45438200-45439600	Enhancers	Placenta	Placenta
18	chr15:45438400-45439000	Enhancers	Gastric	stomach
19	chr15:45438400-45439000	Enhancers	Stomach Mucosa	stomach
20	chr15:45438400-45439200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr15:45438400-45441600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:45438400-45441600	Genic enhancers	NHEK	skin
23	chr15:45438400-45442600	Weak transcription	Spleen	Spleen
24	chr15:45438600-45439000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr15:45438600-45439000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr15:45438600-45439000	Enhancers	Osteobl	bone
27	chr15:45438800-45439000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:45438800-45439400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:45438800-45439600	Genic enhancers	Lung	lung
30	chr15:45438800-45440000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:45438800-45440400	Weak transcription	NHDF-Ad	bronchial
32	chr15:45438800-45440600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:45438800-45441600	Genic enhancers	Esophagus	oesophagus
34	chr15:45438800-45455000	Weak transcription	Rectal Mucosa Donor 31	rectum

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