Variant report

Variant	rs559240509
Chromosome Location	chr3:47018823-47018824
allele	C/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	TEAD4	chr3:47018292-47018856	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr3:47017548-47018840	SK-N-MC	brain:	n/a	n/a
3	NR2F2	chr3:47017408-47018851	K562	blood:	n/a	n/a
4	POLR2A	chr3:47017673-47018825	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr3:47017326-47019016	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47016641..47019456-chr3:47138519..47140806,2	K562	blood:

Variant related genes	Relation type
NBEAL2	TF binding region
CCDC12	TF binding region
ENSG00000181555	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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	28 gene(s)	inside rSNPs	diseases
5	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1009396	chr3:46994991-47048166	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
8	esv1800172	chr3:47013346-47049306	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv590209	chr3:47018214-47050784	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
10	nsv876757	chr3:47018214-47058057	Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	21 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	chr3:47016600-47019000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:47016600-47019000	Active TSS	A549	lung
3	chr3:47016800-47019000	Active TSS	Hela-S3	cervix
4	chr3:47017000-47019000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:47017000-47019000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:47017200-47019200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr3:47017200-47020000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:47017400-47019000	Active TSS	Duodenum Mucosa	Duodenum
9	chr3:47018000-47019000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:47018200-47019000	Weak transcription	Lung	lung
11	chr3:47018200-47019200	Enhancers	Fetal Brain Male	brain
12	chr3:47018200-47019200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:47018200-47020600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:47018200-47020600	Weak transcription	Aorta	Aorta
15	chr3:47018200-47020600	Enhancers	Spleen	Spleen
16	chr3:47018400-47019000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:47018400-47019000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:47018400-47019000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:47018400-47019000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:47018400-47019000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:47018400-47019000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:47018400-47019000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr3:47018400-47019000	Weak transcription	Gastric	stomach
24	chr3:47018400-47019000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr3:47018400-47019000	Weak transcription	NHDF-Ad	bronchial
26	chr3:47018400-47019200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:47018400-47019200	Weak transcription	Esophagus	oesophagus
28	chr3:47018400-47019200	Weak transcription	Small Intestine	intestine
29	chr3:47018400-47019200	Enhancers	NH-A	brain
30	chr3:47018400-47019400	Enhancers	Fetal Heart	heart
31	chr3:47018400-47019400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr3:47018400-47019600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:47018400-47020400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:47018400-47020400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:47018400-47020400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:47018400-47020400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:47018400-47020400	Enhancers	Placenta	Placenta
38	chr3:47018400-47020400	Enhancers	Stomach Mucosa	stomach
39	chr3:47018400-47020600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:47018400-47020600	Weak transcription	HSMMtube	muscle
41	chr3:47018400-47020600	Enhancers	HUVEC	blood vessel
42	chr3:47018400-47020800	Weak transcription	Ovary	ovary
43	chr3:47018400-47021000	Flanking Active TSS	Dnd41	blood
44	chr3:47018600-47019200	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:47018600-47019400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:47018600-47020400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:47018600-47020400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr3:47018600-47020400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr3:47018600-47020600	Weak transcription	Right Atrium	heart
50	chr3:47018800-47019000	Weak transcription	Brain Inferior Temporal Lobe	brain

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