Variant report

Variant	rs553957592
Chromosome Location	chr3:51741747-51741748
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	POLR2A	chr3:51741715-51741776	MCF-7	breast:	n/a	n/a
2	POLR2A	chr3:51741612-51741887	GM12878	blood:	n/a	n/a
3	MXI1	chr3:51739763-51741816	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:51739711..51741988-chr3:51976226..51978640,2	K562	blood:

Variant related genes	Relation type
GRM2	TF binding region
ENSG00000041880	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	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS 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	53 gene(s)	inside rSNPs	diseases
2	esv1814919	chr3:51703488-51752684	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3403870	chr3:51740262-51741860	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51738400-51743400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:51739400-51743400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr3:51739600-51743600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:51740000-51744200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr3:51740200-51746200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:51740200-51755400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:51740400-51742000	Enhancers	Spleen	Spleen
8	chr3:51740400-51742800	Weak transcription	Dnd41	blood
9	chr3:51740600-51752800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:51740800-51746600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:51741000-51741800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr3:51741000-51741800	Enhancers	Brain Anterior Caudate	brain
13	chr3:51741000-51742000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr3:51741000-51742200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr3:51741200-51741800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr3:51741200-51741800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:51741200-51741800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr3:51741200-51741800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:51741200-51741800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr3:51741200-51741800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:51741200-51741800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:51741200-51741800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:51741200-51741800	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr3:51741200-51741800	Flanking Active TSS	Fetal Brain Male	brain
25	chr3:51741200-51742000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr3:51741200-51742000	Active TSS	Brain Angular Gyrus	brain
27	chr3:51741200-51742400	Active TSS	Brain Hippocampus Middle	brain
28	chr3:51741400-51741800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:51741400-51741800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:51741400-51741800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr3:51741400-51741800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:51741400-51741800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:51741400-51741800	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr3:51741400-51741800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:51741400-51741800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:51741400-51741800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:51741400-51741800	Enhancers	Colonic Mucosa	Colon
38	chr3:51741400-51741800	Enhancers	Fetal Heart	heart
39	chr3:51741400-51741800	Bivalent Enhancer	Fetal Intestine Small	intestine
40	chr3:51741400-51741800	Bivalent Enhancer	Placenta	Placenta
41	chr3:51741400-51741800	Enhancers	Ovary	ovary
42	chr3:51741400-51741800	Enhancers	Pancreas	Pancrea
43	chr3:51741400-51741800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr3:51741400-51741800	Enhancers	Right Ventricle	heart
45	chr3:51741400-51742000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:51741400-51742000	Bivalent Enhancer	Fetal Thymus	thymus
47	chr3:51741600-51741800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr3:51741600-51741800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:51741600-51741800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:51741600-51741800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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