Variant report

Variant	rs571709401
Chromosome Location	chr1:171809725-171809726
allele	A/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	GATA2	chr1:171809725-171811031	SH-SY5Y	brain:	n/a	n/a
2	MXI1	chr1:171809663-171812043	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171808145..171810484-chr1:171812590..171815013,2	MCF-7	breast:

Variant related genes	Relation type
DNM3	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3325612	chr1:171809554-171812102	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171796400-171809800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:171796600-171810000	Weak transcription	Pancreas	Pancrea
3	chr1:171803000-171809800	Weak transcription	NHDF-Ad	bronchial
4	chr1:171804400-171810200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:171809600-171809800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:171809600-171809800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:171809600-171809800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr1:171809600-171809800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:171809600-171809800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:171809600-171809800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:171809600-171809800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:171809600-171809800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:171809600-171809800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:171809600-171809800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:171809600-171809800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:171809600-171809800	Enhancers	Brain Angular Gyrus	brain
17	chr1:171809600-171809800	Enhancers	Brain Anterior Caudate	brain
18	chr1:171809600-171809800	Enhancers	Brain Germinal Matrix	brain
19	chr1:171809600-171809800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:171809600-171809800	Enhancers	Brain Substantia Nigra	brain
21	chr1:171809600-171809800	Enhancers	A549	lung
22	chr1:171809600-171809800	Enhancers	Hela-S3	cervix
23	chr1:171809600-171809800	Enhancers	HMEC	breast
24	chr1:171809600-171810000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr1:171809600-171810000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:171809600-171810600	ZNF genes & repeats	Liver	Liver

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