Variant report

Variant	rs532493796
Chromosome Location	chr3:119012328-119012329
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	MXI1	chr3:119012051-119014329	IMR90	lung:	n/a	n/a
2	MXI1	chr3:119011830-119016982	SK-N-SH	brain:	n/a	n/a
3	STAT3	chr3:119012250-119012447	GM12878	blood:	n/a	n/a
4	TCF7L2	chr3:119012295-119014165	PANC-1	pancreas:	n/a	chr3:119012928-119012937 chr3:119012925-119012939
5	POLR2A	chr3:119012253-119014459	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:119011699..119014378-chr3:119015999..119019083,3	MCF-7	breast:
2	chr3:119012312..119014941-chr3:119040203..119043471,4	MCF-7	breast:
3	chr3:119011961..119014558-chr3:119015081..119019200,4	MCF-7	breast:
4	chr3:119011662..119015799-chr3:119040784..119043293,4	MCF-7	breast:

Variant related genes	Relation type
ARHGAP31	TF binding region
ENSG00000242829	Chromatin interaction
ENSG00000241155	Chromatin interaction

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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119007800-119012400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:119008800-119012600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:119008800-119012600	Weak transcription	Esophagus	oesophagus
4	chr3:119008800-119012800	Weak transcription	Spleen	Spleen
5	chr3:119010400-119012400	Weak transcription	Fetal Intestine Large	intestine
6	chr3:119011200-119012400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
7	chr3:119011200-119012400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr3:119011200-119012400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr3:119011200-119012400	Enhancers	Colon Smooth Muscle	Colon
10	chr3:119011400-119012400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr3:119011400-119012400	Enhancers	Primary B cells from peripheral blood	blood
12	chr3:119011400-119012400	Enhancers	Brain Hippocampus Middle	brain
13	chr3:119011400-119012400	Enhancers	Fetal Lung	lung
14	chr3:119011400-119012400	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr3:119011400-119012400	Enhancers	HUVEC	blood vessel
16	chr3:119011400-119012600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:119011400-119012600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:119011400-119012600	Bivalent Enhancer	HepG2	liver
19	chr3:119011400-119012800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr3:119011600-119012400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr3:119011600-119012400	Enhancers	Primary hematopoietic stem cells	blood
22	chr3:119011600-119012400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr3:119011600-119012400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr3:119011600-119012400	Enhancers	Fetal Brain Male	brain
25	chr3:119011600-119012400	Enhancers	Fetal Muscle Leg	muscle
26	chr3:119011600-119012400	Enhancers	Left Ventricle	heart
27	chr3:119011600-119012400	Enhancers	Right Atrium	heart
28	chr3:119011600-119012400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr3:119011600-119012600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:119011600-119012600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:119011600-119012600	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr3:119011600-119012600	Flanking Active TSS	Fetal Heart	heart
33	chr3:119011600-119012800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr3:119011800-119012400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
35	chr3:119011800-119012400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:119011800-119012400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:119011800-119012400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr3:119011800-119012400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:119011800-119012400	Enhancers	Colonic Mucosa	Colon
40	chr3:119011800-119012400	Enhancers	Duodenum Mucosa	Duodenum
41	chr3:119011800-119012400	Enhancers	Rectal Smooth Muscle	rectum
42	chr3:119011800-119012400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr3:119011800-119012400	Flanking Active TSS	Thymus	Thymus
44	chr3:119011800-119012600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:119011800-119012600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:119011800-119012600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr3:119011800-119012600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr3:119011800-119012600	Enhancers	Placenta	Placenta
49	chr3:119011800-119012600	Flanking Active TSS	GM12878-XiMat	blood
50	chr3:119011800-119012800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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