Variant report

Variant	rs553360547
Chromosome Location	chr3:52264218-52264219
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:52261035-52264306	HL-60	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52263321..52268061-chr3:52310039..52314728,5	K562	blood:
2	chr3:52264055..52267306-chr3:52309351..52312799,8	MCF-7	breast:
3	chr3:52262375..52268246-chr3:52270366..52274345,8	K562	blood:
4	chr3:52263787..52265921-chr3:52311180..52314270,4	MCF-7	breast:
5	chr3:52262890..52265555-chr3:52320474..52321976,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173366	TF binding region
TLR9	TF binding region
ENSG00000168237	Chromatin interaction
ENSG00000243224	Chromatin interaction
ENSG00000247596	Chromatin interaction
ENSG00000164091	Chromatin interaction
ENSG00000239732	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
4	nsv460537	chr3:52148233-52290550	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	nsv590301	chr3:52148233-52290550	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv508218	chr3:52155869-52290410	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv834694	chr3:52178983-52335821	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
8	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases
9	nsv876787	chr3:52236762-52367932	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
10	nsv876788	chr3:52247110-52367932	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
11	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
12	nsv876790	chr3:52261382-52286825	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	esv3376719	chr3:52263462-52266260	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52247800-52272200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:52251000-52266600	Weak transcription	Fetal Brain Male	brain
3	chr3:52251600-52266600	Weak transcription	Psoas Muscle	Psoas
4	chr3:52253200-52269600	Weak transcription	Fetal Kidney	kidney
5	chr3:52253400-52264400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:52255000-52268600	Weak transcription	Right Atrium	heart
7	chr3:52255200-52270400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:52259600-52268200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:52260600-52265600	Strong transcription	Esophagus	oesophagus
10	chr3:52261000-52265400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:52261000-52265800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr3:52261000-52266600	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr3:52261000-52269400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:52261200-52264600	Strong transcription	Right Ventricle	heart
15	chr3:52261200-52265000	Strong transcription	Fetal Intestine Small	intestine
16	chr3:52261200-52265600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:52261200-52265800	Strong transcription	Primary T cells from cord blood	blood
18	chr3:52261200-52265800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:52261200-52266400	Strong transcription	Lung	lung
20	chr3:52261200-52267000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr3:52261200-52270800	Strong transcription	Fetal Stomach	stomach
22	chr3:52261400-52264400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr3:52261400-52265200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr3:52261400-52265600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:52261400-52265600	Strong transcription	Liver	Liver
26	chr3:52261400-52269000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:52261400-52269600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:52261600-52264600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:52261600-52264600	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:52261600-52265400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:52261600-52265400	Strong transcription	Spleen	Spleen
32	chr3:52261600-52265800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr3:52261600-52266000	Strong transcription	Brain Anterior Caudate	brain
34	chr3:52261600-52266800	Strong transcription	Placenta	Placenta
35	chr3:52261600-52267000	Strong transcription	Gastric	stomach
36	chr3:52261600-52267200	Strong transcription	Fetal Muscle Leg	muscle
37	chr3:52261600-52269800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr3:52261600-52270000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:52261600-52270000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:52261600-52270600	Strong transcription	NHEK	skin
41	chr3:52261800-52265000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:52261800-52265400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:52261800-52265400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:52261800-52265400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:52261800-52265400	Strong transcription	Thymus	Thymus
46	chr3:52261800-52265600	Strong transcription	Adipose Nuclei	Adipose
47	chr3:52261800-52265600	Strong transcription	Brain Substantia Nigra	brain
48	chr3:52261800-52265800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr3:52261800-52266000	Strong transcription	Left Ventricle	heart
50	chr3:52261800-52266200	Strong transcription	Brain Cingulate Gyrus	brain

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