Variant report

Variant	rs530233684
Chromosome Location	chr3:112021593-112021594
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	JUND	chr3:112021224-112022933	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr3:112020833-112022650	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr3:112021346-112022312	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr3:112021530-112021601	MCF-7	breast:	n/a	n/a
5	SPI1	chr3:112021564-112021908	GM12891	blood:	n/a	n/a
6	ZNF143	chr3:112021133-112023008	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr3:112021187-112022691	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000239482	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv10307	chr3:111903974-112087686	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv3949	chr3:111998512-112044060	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv967052	chr3:112020436-112027937	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112013400-112022200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr3:112016600-112022000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:112016600-112022400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:112017000-112021600	Weak transcription	Fetal Brain Male	brain
5	chr3:112017000-112022200	Weak transcription	Primary T cells from cord blood	blood
6	chr3:112017200-112022000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:112017600-112022000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr3:112017600-112022200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:112017800-112021800	Weak transcription	Primary B cells from cord blood	blood
10	chr3:112017800-112022000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:112017800-112022200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:112018000-112021800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr3:112018000-112021800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr3:112018000-112021800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:112018000-112022000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:112018000-112022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:112018000-112022000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr3:112018000-112022000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:112018000-112022200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:112020800-112021600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:112020800-112022000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr3:112021000-112021600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:112021000-112021600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr3:112021000-112021600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr3:112021000-112021600	ZNF genes & repeats	GM12878-XiMat	blood
26	chr3:112021000-112021800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:112021000-112021800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:112021000-112021800	ZNF genes & repeats	Esophagus	oesophagus
29	chr3:112021000-112021800	Enhancers	Fetal Heart	heart
30	chr3:112021000-112021800	Genic enhancers	Thymus	Thymus
31	chr3:112021000-112022000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr3:112021000-112022000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr3:112021000-112022200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr3:112021000-112022400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:112021000-112022400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr3:112021000-112023000	Active TSS	H9 Cell Line	embryonic stem cell
37	chr3:112021200-112021600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr3:112021200-112021600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:112021200-112021600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:112021200-112021600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:112021200-112021600	Enhancers	Fetal Muscle Trunk	muscle
42	chr3:112021200-112021800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:112021200-112022000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:112021200-112022200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr3:112021200-112022200	Enhancers	Primary hematopoietic stem cells	blood
46	chr3:112021200-112022200	Weak transcription	Spleen	Spleen
47	chr3:112021200-112022400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:112021200-112023400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr3:112021400-112021600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:112021400-112021600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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