Variant report

Variant	rs545444769
Chromosome Location	chr17:38347276-38347277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr17:38346748-38347287	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOXA1	chr17:38346918-38347437	HepG2	liver:	n/a	n/a
3	CTCF	chr17:38346472-38348857	SK-N-SH	brain:	n/a	chr17:38346852-38346861
4	FOXA1	chr17:38346920-38347431	HepG2	liver:	n/a	n/a
5	FOXA2	chr17:38346968-38347464	A549	lung:	n/a	n/a
6	CTCF	chr17:38346555-38347497	A549	lung:	n/a	chr17:38346852-38346861
7	POLR2A	chr17:38346582-38348488	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3A	chr17:38346739-38348233	H1-hESC	embryonic stem cell:	n/a	n/a
9	FOXA2	chr17:38346893-38347478	A549	lung:	n/a	n/a
10	CTCF	chr17:38347260-38347410	GM06990	blood:	n/a	n/a
11	HNF4G	chr17:38346914-38347333	HepG2	liver:	n/a	chr17:38347143-38347158
12	POLR2A	chr17:38346797-38347317	HepG2	liver:	n/a	n/a
13	FOXA1	chr17:38346862-38347424	HepG2	liver:	n/a	n/a
14	CEBPB	chr17:38346956-38347277	HepG2	liver:	n/a	n/a
15	FOXA1	chr17:38347051-38347399	HepG2	liver:	n/a	n/a
16	SMC3	chr17:38347255-38348411	SK-N-SH	brain:	n/a	n/a
17	FOXA2	chr17:38347009-38347359	HepG2	liver:	n/a	n/a
18	POLR2A	chr17:38346602-38348385	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38277920..38280919-chr17:38344747..38347808,3	MCF-7	breast:
2	chr17:38346506..38348012-chr17:38375510..38377087,2	MCF-7	breast:
3	chr17:38330070..38334400-chr17:38346938..38351108,4	K562	blood:
4	chr17:38343572..38346037-chr17:38346737..38348238,2	K562	blood:

No data

Variant related genes	Relation type
RAPGEFL1	TF binding region
ENSG00000108352	Chromatin interaction
ENSG00000171475	Chromatin interaction
ENSG00000188895	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	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3413265	chr17:38346576-38348974	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38334200-38347400	Weak transcription	Aorta	Aorta
2	chr17:38335200-38347800	Weak transcription	Small Intestine	intestine
3	chr17:38336800-38347400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:38338000-38349800	Weak transcription	Dnd41	blood
5	chr17:38339600-38347400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:38341000-38347800	Weak transcription	NHEK	skin
7	chr17:38342400-38347400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr17:38345800-38347400	Weak transcription	Fetal Intestine Large	intestine
9	chr17:38345800-38347400	Weak transcription	Right Ventricle	heart
10	chr17:38346000-38347400	Weak transcription	Brain Hippocampus Middle	brain
11	chr17:38346000-38347600	Weak transcription	HSMMtube	muscle
12	chr17:38346000-38348000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:38346400-38348000	Enhancers	Fetal Heart	heart
14	chr17:38346600-38347400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr17:38346600-38347400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr17:38346600-38347400	Enhancers	Fetal Muscle Trunk	muscle
17	chr17:38346600-38347400	Enhancers	Placenta	Placenta
18	chr17:38346600-38347400	Bivalent Enhancer	Fetal Stomach	stomach
19	chr17:38346600-38347400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr17:38346600-38347400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr17:38346600-38347400	Enhancers	A549	lung
22	chr17:38346600-38347800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr17:38346800-38347400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:38346800-38347400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:38346800-38347400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr17:38346800-38347400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr17:38346800-38347400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr17:38346800-38347400	Enhancers	Primary B cells from peripheral blood	blood
29	chr17:38346800-38347400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr17:38346800-38347400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr17:38346800-38347400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr17:38346800-38347400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr17:38346800-38347400	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr17:38346800-38347400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr17:38346800-38347400	Enhancers	Colon Smooth Muscle	Colon
36	chr17:38346800-38347400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr17:38346800-38347400	Flanking Active TSS	Fetal Brain Female	brain
38	chr17:38346800-38347400	Bivalent Enhancer	Fetal Thymus	thymus
39	chr17:38346800-38347400	Enhancers	Ovary	ovary
40	chr17:38346800-38347400	Enhancers	Thymus	Thymus
41	chr17:38346800-38347400	Enhancers	Spleen	Spleen
42	chr17:38346800-38347600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr17:38346800-38347600	Enhancers	Liver	Liver
44	chr17:38346800-38347600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
45	chr17:38346800-38347600	Enhancers	HMEC	breast
46	chr17:38346800-38348200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr17:38346800-38348200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:38346800-38348400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chr17:38346800-38348400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:38346800-38348600	Enhancers	Fetal Brain Male	brain

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