Variant report

Variant	rs549632994
Chromosome Location	chr5:75668279-75668280
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	ELF1	chr5:75667867-75668731	K562	blood:	n/a	n/a
2	JUND	chr5:75668196-75668828	HepG2	liver:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668609-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
3	MAX	chr5:75667900-75668888	K562	blood:	n/a	chr5:75668611-75668620 chr5:75668610-75668619
4	MAZ	chr5:75668029-75669003	K562	blood:	n/a	chr5:75668611-75668620 chr5:75668610-75668619 chr5:75668932-75668941
5	BACH1	chr5:75667878-75669011	K562	blood:	n/a	chr5:75668608-75668622
6	JUND	chr5:75668083-75669058	K562	blood:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668609-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
7	TAL1	chr5:75668266-75668860	K562	blood:	n/a	n/a
8	BHLHE40	chr5:75668018-75669098	K562	blood:	n/a	n/a
9	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
10	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
11	RCOR1	chr5:75668128-75668328	HepG2	liver:	n/a	n/a
12	MYC	chr5:75667938-75668824	K562	blood:	n/a	chr5:75668611-75668620 chr5:75668610-75668619
13	MAFF	chr5:75667890-75669010	K562	blood:	n/a	chr5:75668609-75668627
14	FOSL1	chr5:75668252-75669034	HCT-116	colon:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668609-75668620 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
15	POLR2A	chr5:75667879-75669103	K562	blood:	n/a	n/a
16	JUND	chr5:75668233-75668997	HCT-116	colon:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668609-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
17	GATA2	chr5:75668216-75668815	K562	blood:	n/a	chr5:75668565-75668574
18	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
19	HMGN3	chr5:75668260-75668911	K562	blood:	n/a	chr5:75668609-75668618
20	GATA1	chr5:75668087-75669046	PBDE	blood:	n/a	chr5:75668565-75668574
21	MYC	chr5:75668055-75668908	K562	blood:	n/a	chr5:75668611-75668620 chr5:75668610-75668619
22	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
23	FOSL2	chr5:75668211-75669050	A549	lung:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
24	TEAD4	chr5:75668224-75669039	K562	blood:	n/a	n/a
25	CHD1	chr5:75667802-75669047	IMR90	lung:	n/a	n/a
26	EP300	chr5:75668050-75668835	K562	blood:	n/a	chr5:75668610-75668619 chr5:75668765-75668778 chr5:75668563-75668572 chr5:75668611-75668620
27	CEBPB	chr5:75668244-75668737	K562	blood:	n/a	n/a
28	UBTF	chr5:75668220-75668959	K562	blood:	n/a	n/a
29	FOXA2	chr5:75668208-75668744	A549	lung:	n/a	n/a
30	PBX3	chr5:75668260-75668905	SK-N-SH	brain:	n/a	n/a
31	MXI1	chr5:75667937-75668853	HepG2	liver:	n/a	n/a
32	MAFF	chr5:75667886-75668891	HepG2	liver:	n/a	chr5:75668609-75668627
33	FOXA1	chr5:75668239-75668726	HepG2	liver:	n/a	n/a
34	RCOR1	chr5:75667897-75668898	K562	blood:	n/a	n/a
35	MAX	chr5:75668034-75668789	K562	blood:	n/a	chr5:75668611-75668620 chr5:75668610-75668619
36	E2F4	chr5:75668208-75668710	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr5:75668084-75668596	HepG2	liver:	n/a	n/a
38	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
39	JUND	chr5:75668226-75668941	SK-N-SH	brain:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668609-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
40	JUND	chr5:75668148-75669111	SK-N-SH	brain:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668609-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
41	FOSL2	chr5:75668263-75668917	MCF-7	breast:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
42	MAX	chr5:75667782-75668941	A549	lung:	n/a	chr5:75668611-75668620 chr5:75667860-75667869 chr5:75668610-75668619 chr5:75668932-75668941
43	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
44	FOXA2	chr5:75668222-75668690	A549	lung:	n/a	n/a
45	TCF12	chr5:75668259-75668856	A549	lung:	n/a	n/a
46	RCOR1	chr5:75668008-75668828	K562	blood:	n/a	n/a
47	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
48	CCNT2	chr5:75668210-75668832	K562	blood:	n/a	n/a
49	JUND	chr5:75668242-75668791	MCF-7	breast:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668609-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
50	GATA3	chr5:75668241-75668962	SK-N-SH	brain:	n/a	chr5:75668565-75668574

No.	Distal block	Cell Line	Cell type
1	chr5:75630696..75632382-chr5:75666521..75668676,2	K562	blood:
2	chr5:75668230..75670019-chr5:75671615..75674101,2	K562	blood:
3	chr5:75658187..75661153-chr5:75667943..75670127,2	K562	blood:
4	chr5:75663384..75665585-chr5:75666962..75670034,4	K562	blood:
5	chr5:75661896..75664884-chr5:75666923..75670034,3	K562	blood:
6	chr5:75667400..75670922-chr5:75672523..75674364,4	K562	blood:

Variant related genes	Relation type
ENSG00000251235	TF binding region
ENSG00000251235	Chromatin interaction

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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75667200-75668800	Enhancers	Pancreas	Pancrea
2	chr5:75667200-75669000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:75667200-75669000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:75667200-75669000	Enhancers	Placenta	Placenta
5	chr5:75667400-75669000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:75667600-75669000	Enhancers	HMEC	breast
7	chr5:75667800-75668400	Enhancers	Adipose Nuclei	Adipose
8	chr5:75667800-75668400	Enhancers	Gastric	stomach
9	chr5:75667800-75668600	Enhancers	Primary hematopoietic stem cells	blood
10	chr5:75667800-75668600	Enhancers	Liver	Liver
11	chr5:75667800-75668800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr5:75667800-75668800	Flanking Active TSS	HepG2	liver
13	chr5:75667800-75668800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr5:75667800-75669000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:75667800-75669000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:75667800-75669000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:75667800-75669000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:75667800-75669000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:75667800-75669000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr5:75667800-75669000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:75667800-75669000	Enhancers	Esophagus	oesophagus
22	chr5:75667800-75669000	Enhancers	Fetal Intestine Small	intestine
23	chr5:75667800-75669000	Flanking Active TSS	K562	blood
24	chr5:75667800-75669000	Enhancers	NH-A	brain
25	chr5:75667800-75669200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:75667800-75669200	Enhancers	NHEK	skin
27	chr5:75667800-75669800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:75668000-75668400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr5:75668000-75668400	Enhancers	Colonic Mucosa	Colon
30	chr5:75668000-75668600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:75668000-75668600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:75668000-75668600	Enhancers	Fetal Intestine Large	intestine
33	chr5:75668000-75668600	Enhancers	Fetal Stomach	stomach
34	chr5:75668000-75668800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:75668000-75668800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:75668000-75668800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr5:75668000-75668800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:75668000-75668800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr5:75668000-75668800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr5:75668000-75668800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:75668000-75668800	Enhancers	Duodenum Mucosa	Duodenum
42	chr5:75668000-75668800	Enhancers	Fetal Thymus	thymus
43	chr5:75668000-75668800	Enhancers	NHLF	lung
44	chr5:75668000-75669000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:75668000-75669000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:75668000-75669000	Enhancers	Placenta Amnion	Placenta Amnion
47	chr5:75668000-75669000	Enhancers	Stomach Mucosa	stomach
48	chr5:75668000-75669000	Enhancers	Hela-S3	cervix
49	chr5:75668000-75669000	Enhancers	NHDF-Ad	bronchial
50	chr5:75668200-75668600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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