Variant report

Variant	rs533549270
Chromosome Location	chr17:38347085-38347086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 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	MAFK	chr17:38347064-38347106	HepG2	liver:	n/a	n/a
3	FOXA1	chr17:38346918-38347437	HepG2	liver:	n/a	n/a
4	CTCF	chr17:38346472-38348857	SK-N-SH	brain:	n/a	chr17:38346852-38346861
5	FOXA1	chr17:38346920-38347431	HepG2	liver:	n/a	n/a
6	FOXA2	chr17:38346968-38347464	A549	lung:	n/a	n/a
7	CTCF	chr17:38346555-38347497	A549	lung:	n/a	chr17:38346852-38346861
8	CTCF	chr17:38346619-38347108	H1-hESC	embryonic stem cell:	n/a	chr17:38346852-38346861
9	POLR2A	chr17:38346582-38348488	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr17:38346739-38348233	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr17:38346762-38347224	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr17:38347080-38347230	HMEC	breast:	n/a	n/a
13	POLR2A	chr17:38346705-38347148	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr17:38347080-38347230	GM12867	blood:	n/a	n/a
15	POLR2A	chr17:38346657-38347187	HepG2	liver:	n/a	n/a
16	CTCF	chr17:38346708-38347127	K562	blood:	n/a	chr17:38346852-38346861
17	FOXA2	chr17:38346893-38347478	A549	lung:	n/a	n/a
18	CTCF	chr17:38346709-38347092	K562	blood:	n/a	chr17:38346852-38346861
19	POLR2A	chr17:38346581-38347252	MCF-7	breast:	n/a	n/a
20	CTCF	chr17:38347020-38347170	AG09319	gingival:	n/a	n/a
21	ZBTB7A	chr17:38347059-38347262	HepG2	liver:	n/a	n/a
22	CTCF	chr17:38346562-38347179	H1-hESC	embryonic stem cell:	n/a	chr17:38346852-38346861
23	MYC	chr17:38346785-38347271	H1-hESC	embryonic stem cell:	n/a	n/a
24	HNF4G	chr17:38346914-38347333	HepG2	liver:	n/a	chr17:38347143-38347158
25	CTCF	chr17:38346960-38347110	GM12801	blood:	n/a	n/a
26	CEBPD	chr17:38347053-38347211	HepG2	liver:	n/a	n/a
27	CEBPB	chr17:38347009-38347221	HepG2	liver:	n/a	n/a
28	POLR2A	chr17:38346797-38347317	HepG2	liver:	n/a	n/a
29	GTF2F1	chr17:38346747-38347116	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr17:38346649-38347217	K562	blood:	n/a	n/a
31	FOXA1	chr17:38346862-38347424	HepG2	liver:	n/a	n/a
32	EP300	chr17:38346777-38347188	HepG2	liver:	n/a	n/a
33	CHD2	chr17:38346954-38347094	HepG2	liver:	n/a	n/a
34	POLR2A	chr17:38346574-38347225	SK-N-MC	brain:	n/a	n/a
35	CEBPB	chr17:38346956-38347277	HepG2	liver:	n/a	n/a
36	CTCF	chr17:38346684-38347174	HepG2	liver:	n/a	chr17:38346852-38346861
37	HNF4A	chr17:38346905-38347266	HepG2	liver:	n/a	chr17:38347142-38347157
38	MYC	chr17:38346970-38347249	HepG2	liver:	n/a	n/a
39	YY1	chr17:38346660-38347187	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr17:38346804-38347147	HepG2	liver:	n/a	n/a
41	FOXA1	chr17:38347051-38347399	HepG2	liver:	n/a	n/a
42	POLR2A	chr17:38346613-38347144	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr17:38346716-38347173	H1-hESC	embryonic stem cell:	n/a	chr17:38346852-38346861
44	MAX	chr17:38346687-38347236	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr17:38346632-38347127	HepG2	liver:	n/a	chr17:38346852-38346861
46	FOXA2	chr17:38347009-38347359	HepG2	liver:	n/a	n/a
47	POLR2A	chr17:38346602-38348385	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr17:38346621-38347099	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38255845..38258486-chr17:38345556..38347163,2	MCF-7	breast:
2	chr17:38277920..38280919-chr17:38344747..38347808,3	MCF-7	breast:
3	chr17:38346506..38348012-chr17:38375510..38377087,2	MCF-7	breast:
4	chr17:38330070..38334400-chr17:38346938..38351108,4	K562	blood:
5	chr17:38168785..38171760-chr17:38343651..38347238,3	K562	blood:
6	chr17:38343572..38346037-chr17:38346737..38348238,2	K562	blood:

No data

Variant related genes	Relation type
RAPGEFL1	TF binding region
ENSG00000265799	Chromatin interaction
ENSG00000171475	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000126368	Chromatin interaction
ENSG00000108342	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:118 , 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	chr17:38337200-38347200	Weak transcription	NH-A	brain
5	chr17:38338000-38349800	Weak transcription	Dnd41	blood
6	chr17:38339600-38347400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr17:38341000-38347800	Weak transcription	NHEK	skin
8	chr17:38342400-38347400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr17:38343400-38347200	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr17:38345000-38347200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:38345800-38347400	Weak transcription	Fetal Intestine Large	intestine
12	chr17:38345800-38347400	Weak transcription	Right Ventricle	heart
13	chr17:38346000-38347400	Weak transcription	Brain Hippocampus Middle	brain
14	chr17:38346000-38347600	Weak transcription	HSMMtube	muscle
15	chr17:38346000-38348000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:38346200-38347200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:38346400-38348000	Enhancers	Fetal Heart	heart
18	chr17:38346600-38347200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:38346600-38347200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr17:38346600-38347200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
21	chr17:38346600-38347200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:38346600-38347200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:38346600-38347200	Genic enhancers	Esophagus	oesophagus
24	chr17:38346600-38347200	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr17:38346600-38347200	Flanking Active TSS	HepG2	liver
26	chr17:38346600-38347400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr17:38346600-38347400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr17:38346600-38347400	Enhancers	Fetal Muscle Trunk	muscle
29	chr17:38346600-38347400	Enhancers	Placenta	Placenta
30	chr17:38346600-38347400	Bivalent Enhancer	Fetal Stomach	stomach
31	chr17:38346600-38347400	Enhancers	Placenta Amnion	Placenta Amnion
32	chr17:38346600-38347400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr17:38346600-38347400	Enhancers	A549	lung
34	chr17:38346600-38347800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr17:38346800-38347200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr17:38346800-38347200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr17:38346800-38347200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr17:38346800-38347200	Transcr. at gene 5' and 3'	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr17:38346800-38347200	Bivalent Enhancer	Primary B cells from cord blood	blood
40	chr17:38346800-38347200	Enhancers	Adipose Nuclei	Adipose
41	chr17:38346800-38347200	Enhancers	Brain Anterior Caudate	brain
42	chr17:38346800-38347200	Flanking Active TSS	Gastric	stomach
43	chr17:38346800-38347200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr17:38346800-38347400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:38346800-38347400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:38346800-38347400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr17:38346800-38347400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr17:38346800-38347400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
49	chr17:38346800-38347400	Enhancers	Primary B cells from peripheral blood	blood
50	chr17:38346800-38347400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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