Variant report

Variant	rs542971292
Chromosome Location	chr5:75668038-75668039
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	ELF1	chr5:75667867-75668731	K562	blood:	n/a	n/a
2	MAX	chr5:75667900-75668888	K562	blood:	n/a	chr5:75668611-75668620 chr5:75668610-75668619
3	MAZ	chr5:75668029-75669003	K562	blood:	n/a	chr5:75668611-75668620 chr5:75668610-75668619 chr5:75668932-75668941
4	BACH1	chr5:75667878-75669011	K562	blood:	n/a	chr5:75668608-75668622
5	BHLHE40	chr5:75668018-75669098	K562	blood:	n/a	n/a
6	JUND	chr5:75667737-75669109	HCT-116	colon:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668609-75668620 chr5:75667860-75667867 chr5:75668565-75668572 chr5:75667860-75667868 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75667860-75667868 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
7	FOS	chr5:75667675-75668039	MCF10A-Er-Src	breast:	n/a	chr5:75667860-75667867 chr5:75667860-75667868 chr5:75667860-75667868
8	FOSL1	chr5:75667642-75669054	HCT-116	colon:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75667860-75667867 chr5:75668565-75668572 chr5:75667860-75667868 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668609-75668620 chr5:75667860-75667868 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
9	MYC	chr5:75667938-75668824	K562	blood:	n/a	chr5:75668611-75668620 chr5:75668610-75668619
10	MAFF	chr5:75667890-75669010	K562	blood:	n/a	chr5:75668609-75668627
11	POLR2A	chr5:75667879-75669103	K562	blood:	n/a	n/a
12	FOS	chr5:75667724-75668051	MCF10A-Er-Src	breast:	n/a	chr5:75667860-75667867 chr5:75667860-75667868 chr5:75667860-75667868
13	MAFK	chr5:75667873-75668893	HepG2	liver:	n/a	chr5:75668068-75668079 chr5:75668066-75668080 chr5:75668611-75668621 chr5:75668610-75668625 chr5:75668067-75668078 chr5:75668067-75668083 chr5:75668614-75668625 chr5:75668605-75668625 chr5:75668562-75668572 chr5:75668067-75668078 chr5:75668612-75668621
14	FOXA2	chr5:75667947-75668198	HepG2	liver:	n/a	n/a
15	MAFK	chr5:75667891-75668905	IMR90	lung:	n/a	chr5:75668068-75668079 chr5:75668066-75668080 chr5:75668611-75668621 chr5:75668610-75668625 chr5:75668067-75668078 chr5:75668067-75668083 chr5:75668614-75668625 chr5:75668605-75668625 chr5:75668562-75668572 chr5:75668067-75668078 chr5:75668612-75668621
16	CHD1	chr5:75667802-75669047	IMR90	lung:	n/a	n/a
17	RFX5	chr5:75667935-75668251	HepG2	liver:	n/a	chr5:75668079-75668094
18	MXI1	chr5:75667937-75668853	HepG2	liver:	n/a	n/a
19	MAFF	chr5:75667886-75668891	HepG2	liver:	n/a	chr5:75668609-75668627
20	RCOR1	chr5:75667897-75668898	K562	blood:	n/a	n/a
21	MAX	chr5:75668034-75668789	K562	blood:	n/a	chr5:75668611-75668620 chr5:75668610-75668619
22	MAFK	chr5:75667887-75668996	K562	blood:	n/a	chr5:75668068-75668079 chr5:75668066-75668080 chr5:75668611-75668621 chr5:75668610-75668625 chr5:75668067-75668078 chr5:75668067-75668083 chr5:75668614-75668625 chr5:75668605-75668625 chr5:75668562-75668572 chr5:75668067-75668078 chr5:75668612-75668621
23	MAX	chr5:75667782-75668941	A549	lung:	n/a	chr5:75668611-75668620 chr5:75667860-75667869 chr5:75668610-75668619 chr5:75668932-75668941
24	MAFK	chr5:75667935-75668788	H1-hESC	embryonic stem cell:	n/a	chr5:75668068-75668079 chr5:75668066-75668080 chr5:75668611-75668621 chr5:75668610-75668625 chr5:75668067-75668078 chr5:75668067-75668083 chr5:75668614-75668625 chr5:75668605-75668625 chr5:75668562-75668572 chr5:75668067-75668078 chr5:75668612-75668621
25	RCOR1	chr5:75668008-75668828	K562	blood:	n/a	n/a
26	JUN	chr5:75667630-75669245	K562	blood:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75667860-75667867 chr5:75668565-75668572 chr5:75667860-75667868 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75667860-75667868 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
27	MAFK	chr5:75667879-75668968	HepG2	liver:	n/a	chr5:75668068-75668079 chr5:75668066-75668080 chr5:75668611-75668621 chr5:75668610-75668625 chr5:75668067-75668078 chr5:75668067-75668083 chr5:75668614-75668625 chr5:75668605-75668625 chr5:75668562-75668572 chr5:75668067-75668078 chr5:75668612-75668621
28	FOS	chr5:75667714-75668053	MCF10A-Er-Src	breast:	n/a	chr5:75667860-75667867 chr5:75667860-75667868 chr5:75667860-75667868

No.	Distal block	Cell Line	Cell type
1	chr5:75630696..75632382-chr5:75666521..75668676,2	K562	blood:
2	chr5:75658187..75661153-chr5:75667943..75670127,2	K562	blood:
3	chr5:75663384..75665585-chr5:75666962..75670034,4	K562	blood:
4	chr5:75661896..75664884-chr5:75666923..75670034,3	K562	blood:
5	chr5:75667400..75670922-chr5:75672523..75674364,4	K562	blood:

Variant related genes	Relation type
ENSG00000251235	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv328635	chr5:75667780-75669370	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75663800-75668200	Weak transcription	Spleen	Spleen
2	chr5:75667200-75668800	Enhancers	Pancreas	Pancrea
3	chr5:75667200-75669000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:75667200-75669000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:75667200-75669000	Enhancers	Placenta	Placenta
6	chr5:75667400-75669000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:75667600-75669000	Enhancers	HMEC	breast
8	chr5:75667800-75668200	Enhancers	A549	lung
9	chr5:75667800-75668400	Enhancers	Adipose Nuclei	Adipose
10	chr5:75667800-75668400	Enhancers	Gastric	stomach
11	chr5:75667800-75668600	Enhancers	Primary hematopoietic stem cells	blood
12	chr5:75667800-75668600	Enhancers	Liver	Liver
13	chr5:75667800-75668800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr5:75667800-75668800	Flanking Active TSS	HepG2	liver
15	chr5:75667800-75668800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr5:75667800-75669000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:75667800-75669000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:75667800-75669000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:75667800-75669000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:75667800-75669000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:75667800-75669000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr5:75667800-75669000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:75667800-75669000	Enhancers	Esophagus	oesophagus
24	chr5:75667800-75669000	Enhancers	Fetal Intestine Small	intestine
25	chr5:75667800-75669000	Flanking Active TSS	K562	blood
26	chr5:75667800-75669000	Enhancers	NH-A	brain
27	chr5:75667800-75669200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:75667800-75669200	Enhancers	NHEK	skin
29	chr5:75667800-75669800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:75668000-75668400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr5:75668000-75668400	Enhancers	Colonic Mucosa	Colon
32	chr5:75668000-75668600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:75668000-75668600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr5:75668000-75668600	Enhancers	Fetal Intestine Large	intestine
35	chr5:75668000-75668600	Enhancers	Fetal Stomach	stomach
36	chr5:75668000-75668800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:75668000-75668800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:75668000-75668800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:75668000-75668800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr5:75668000-75668800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr5:75668000-75668800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr5:75668000-75668800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:75668000-75668800	Enhancers	Duodenum Mucosa	Duodenum
44	chr5:75668000-75668800	Enhancers	Fetal Thymus	thymus
45	chr5:75668000-75668800	Enhancers	NHLF	lung
46	chr5:75668000-75669000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:75668000-75669000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:75668000-75669000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr5:75668000-75669000	Enhancers	Stomach Mucosa	stomach
50	chr5:75668000-75669000	Enhancers	Hela-S3	cervix

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