Variant report

Variant	rs182890500
Chromosome Location	chr3:52742146-52742147
allele	A/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	chr3:52742145-52742715	K562	blood:	n/a	n/a
2	RUNX3	chr3:52741360-52742165	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:52742120-52742560	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52718628..52724105-chr3:52738117..52743946,12	MCF-7	breast:

Variant related genes	Relation type
GLT8D1	TF binding region
ENSG00000212493	Chromatin interaction
ENSG00000163938	Chromatin interaction
ENSG00000163939	Chromatin interaction
ENSG00000252787	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv508219	chr3:52741193-52803899	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52739000-52742600	Active TSS	GM12878-XiMat	blood
2	chr3:52740200-52742200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:52740600-52742400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr3:52741000-52742200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:52741000-52742400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:52741000-52742400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr3:52741000-52746400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:52741000-52748200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:52741000-52748200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:52741000-52748800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:52741000-52748800	Weak transcription	Lung	lung
12	chr3:52741200-52742200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:52741200-52742200	Enhancers	Colon Smooth Muscle	Colon
14	chr3:52741200-52742200	Enhancers	Fetal Brain Male	brain
15	chr3:52741200-52742400	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr3:52741200-52742400	Enhancers	Primary hematopoietic stem cells	blood
17	chr3:52741200-52748200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:52741400-52742200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:52741400-52742400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
20	chr3:52741400-52746600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:52741400-52747000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:52741400-52765600	Weak transcription	Aorta	Aorta
23	chr3:52741400-52766600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:52741600-52742200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:52741600-52742200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:52741600-52742200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr3:52741600-52742200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:52741600-52742200	Genic enhancers	Brain Hippocampus Middle	brain
29	chr3:52741600-52742200	Genic enhancers	Stomach Mucosa	stomach
30	chr3:52741600-52742200	Genic enhancers	HMEC	breast
31	chr3:52741600-52742400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr3:52741600-52742400	Genic enhancers	Primary B cells from peripheral blood	blood
33	chr3:52741600-52742400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr3:52741600-52742400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:52741600-52742400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
36	chr3:52741600-52742400	Enhancers	Pancreas	Pancrea
37	chr3:52741600-52742800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:52741600-52743000	Strong transcription	NHDF-Ad	bronchial
39	chr3:52741600-52743600	Weak transcription	Left Ventricle	heart
40	chr3:52741600-52746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:52741600-52746400	Weak transcription	Gastric	stomach
42	chr3:52741600-52746400	Weak transcription	Spleen	Spleen
43	chr3:52741600-52746600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr3:52741600-52747000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:52741600-52747000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:52741600-52748000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr3:52741600-52748200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:52741600-52748200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr3:52741600-52748400	Weak transcription	Colonic Mucosa	Colon
50	chr3:52741600-52748400	Weak transcription	Right Ventricle	heart

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