Variant report

Variant	rs550280574
Chromosome Location	chr5:179159441-179159442
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:407)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr5:179159033-179160964	MCF-7	breast:	n/a	n/a
2	BHLHE40	chr5:179158862-179159864	K562	blood:	n/a	n/a
3	CREB1	chr5:179159349-179160131	A549	lung:	n/a	n/a
4	SIN3A	chr5:179159390-179160582	GM12878	blood:	n/a	chr5:179159551-179159560
5	POLR2A	chr5:179159049-179160434	ProgFib	skin:	n/a	n/a
6	ELF1	chr5:179159305-179159687	A549	lung:	n/a	n/a
7	STAT3	chr5:179159122-179159648	Hela-S3	cervix:	n/a	n/a
8	UBTF	chr5:179159357-179160898	K562	blood:	n/a	n/a
9	TCF7L2	chr5:179159294-179160052	MCF-7	breast:	n/a	n/a
10	NR2F2	chr5:179158553-179159941	K562	blood:	n/a	n/a
11	FOS	chr5:179159060-179159863	MCF10A-Er-Src	breast:	n/a	chr5:179159752-179159761
12	TAF1	chr5:179159405-179160246	SK-N-SH	brain:	n/a	n/a
13	TAF1	chr5:179159239-179160191	A549	lung:	n/a	n/a
14	JUN	chr5:179159320-179160130	K562	blood:	n/a	chr5:179159752-179159761
15	TEAD4	chr5:179159397-179159927	HepG2	liver:	n/a	n/a
16	EP300	chr5:179159095-179159543	GM12878	blood:	n/a	n/a
17	RELA	chr5:179159161-179160185	GM10847	blood:	n/a	n/a
18	NFYB	chr5:179159404-179160127	K562	blood:	n/a	chr5:179159750-179159765 chr5:179159752-179159765 chr5:179159754-179159766 chr5:179159753-179159763 chr5:179159752-179159767 chr5:179159751-179159765 chr5:179159750-179159765
19	MXI1	chr5:179159163-179159878	K562	blood:	n/a	n/a
20	TAF1	chr5:179159312-179160338	ECC-1	luminal epithelium:	n/a	n/a
21	ZNF143	chr5:179159394-179159776	H1-hESC	embryonic stem cell:	n/a	n/a
22	EP300	chr5:179159229-179160040	A549	lung:	n/a	chr5:179159668-179159677
23	RAD21	chr5:179159404-179159660	SK-N-SH_RA	brain:	n/a	chr5:179159615-179159625
24	PBX3	chr5:179159430-179159956	GM12878	blood:	n/a	chr5:179159753-179159762 chr5:179159757-179159777 chr5:179159596-179159605
25	EP300	chr5:179159381-179160183	SK-N-SH	brain:	n/a	chr5:179159668-179159677
26	HCFC1	chr5:179159364-179160575	K562	blood:	n/a	n/a
27	POLR2A	chr5:179158879-179160178	GM12891	blood:	n/a	n/a
28	BHLHE40	chr5:179159432-179159867	HepG2	liver:	n/a	n/a
29	TCF7L2	chr5:179159348-179160070	PANC-1	pancreas:	n/a	n/a
30	PML	chr5:179159358-179159999	K562	blood:	n/a	n/a
31	POLR2A	chr5:179159303-179160066	HEK293	kidney:	n/a	n/a
32	STAT3	chr5:179159147-179159831	MCF10A-Er-Src	breast:	n/a	n/a
33	JUND	chr5:179159017-179160011	K562	blood:	n/a	chr5:179159752-179159761 chr5:179159223-179159234
34	POLR2A	chr5:179159324-179160069	GM10847	blood:	n/a	n/a
35	REST	chr5:179159073-179160165	HL-60	blood:	n/a	n/a
36	POLR2A	chr5:179158625-179160201	GM12892	blood:	n/a	n/a
37	MAX	chr5:179159082-179160843	MCF-7	breast:	n/a	n/a
38	CEBPB	chr5:179159099-179160088	ECC-1	luminal epithelium:	n/a	n/a
39	CHD2	chr5:179159172-179160041	GM12878	blood:	n/a	n/a
40	STAT3	chr5:179159167-179159784	MCF10A-Er-Src	breast:	n/a	n/a
41	CREB1	chr5:179158968-179160113	GM12878	blood:	n/a	n/a
42	POLR2A	chr5:179158657-179160317	GM12878	blood:	n/a	n/a
43	EP300	chr5:179159229-179159907	K562	blood:	n/a	chr5:179159668-179159677
44	SRF	chr5:179159164-179160028	MCF-7	breast:	n/a	n/a
45	TAF1	chr5:179159353-179160326	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr5:179158956-179160730	Hela-S3	cervix:	n/a	n/a
47	TAF1	chr5:179159324-179160091	MCF-7	breast:	n/a	n/a
48	NFIC	chr5:179158544-179160010	GM12878	blood:	n/a	n/a
49	TAF1	chr5:179159347-179160301	GM12878	blood:	n/a	n/a
50	PBX3	chr5:179159327-179160074	A549	lung:	n/a	chr5:179159753-179159762 chr5:179159757-179159777 chr5:179159596-179159605

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179157063..179161797-chr5:179244181..179249709,13	MCF-7	breast:
2	chr5:179159153..179161624-chr5:179334257..179336629,3	MCF-7	breast:
3	chr5:179158130..179161320-chr5:179231546..179235366,4	K562	blood:
4	chr5:179123632..179128657-chr5:179156913..179163491,14	MCF-7	breast:
5	chr5:179158644..179160831-chr5:179243809..179247207,3	K562	blood:
6	chr5:179158923..179161339-chr5:179247308..179249406,2	K562	blood:
7	chr5:179159145..179159714-chr5:179223109..179223845,2	MCF-7	breast:
8	chr5:179134656..179136597-chr5:179158024..179159754,2	K562	blood:
9	chr5:179122873..179128898-chr5:179155888..179164921,20	K562	blood:
10	chr5:179124035..179127505-chr5:179157238..179162405,12	MCF-7	breast:
11	chr5:179134567..179136257-chr5:179157699..179160057,2	MCF-7	breast:
12	chr5:179158622..179161306-chr5:179229255..179232070,3	MCF-7	breast:
13	chr5:179157089..179164271-chr5:179242384..179250347,16	K562	blood:
14	chr5:179148995..179151218-chr5:179158028..179161139,3	MCF-7	breast:
15	chr5:178976288..178979908-chr5:179158372..179161228,3	MCF-7	breast:
16	chr5:179159426..179161743-chr5:179249637..179251731,2	MCF-7	breast:
17	chr5:179152255..179157364-chr5:179157617..179161141,8	K562	blood:
18	chr5:179102368..179107935-chr5:179157286..179161555,5	K562	blood:
19	chr5:179104047..179107935-chr5:179157751..179161258,3	K562	blood:
20	chr5:179051109..179052652-chr5:179157575..179159893,2	K562	blood:
21	chr5:179048168..179052824-chr5:179156969..179161337,9	MCF-7	breast:
22	chr5:179143486..179153989-chr5:179156108..179164461,19	MCF-7	breast:
23	chr5:179121400..179128828-chr5:179157984..179161377,21	K562	blood:
24	chr5:179158179..179161014-chr5:179220671..179223680,5	MCF-7	breast:
25	chr5:179157523..179162988-chr5:179219694..179224698,13	MCF-7	breast:
26	chr5:179131963..179134145-chr5:179158329..179159855,2	K562	blood:
27	chr15:65588145..65588820-chr5:179159372..179160191,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
MAML1	TF binding region
ENSG00000197226	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000225051	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000161011	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS 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 miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
5	esv3413500	chr5:179159171-179161719	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179130800-179159800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:179152200-179159800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:179155000-179159800	Weak transcription	Spleen	Spleen
4	chr5:179156000-179159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:179156600-179159800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:179156600-179159800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:179158200-179159600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:179158200-179159800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:179158600-179159600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr5:179158600-179161200	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr5:179158800-179159600	Flanking Active TSS	HUVEC	blood vessel
12	chr5:179158800-179159800	Enhancers	Fetal Brain Male	brain
13	chr5:179158800-179160800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr5:179158800-179160800	Active TSS	Thymus	Thymus
15	chr5:179158800-179161200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:179158800-179161400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr5:179158800-179161400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr5:179159000-179159600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr5:179159000-179159600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:179159000-179159600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:179159000-179159600	Flanking Active TSS	Dnd41	blood
22	chr5:179159000-179159600	Flanking Active TSS	NHEK	skin
23	chr5:179159000-179160800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:179159000-179161000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:179159000-179161000	Active TSS	Brain Substantia Nigra	brain
26	chr5:179159000-179161000	Active TSS	Small Intestine	intestine
27	chr5:179159000-179161000	Active TSS	A549	lung
28	chr5:179159000-179161200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:179159000-179161200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:179159000-179161200	Active TSS	K562	blood
31	chr5:179159000-179161400	Active TSS	HepG2	liver
32	chr5:179159000-179161600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:179159000-179161600	Active TSS	Right Atrium	heart
34	chr5:179159000-179162000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr5:179159000-179162000	Active TSS	Colonic Mucosa	Colon
36	chr5:179159200-179159600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr5:179159200-179159600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr5:179159200-179160400	Active TSS	Adipose Nuclei	Adipose
39	chr5:179159200-179160400	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr5:179159200-179160600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:179159200-179160800	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr5:179159200-179160800	Active TSS	Brain Hippocampus Middle	brain
43	chr5:179159200-179160800	Active TSS	Placenta	Placenta
44	chr5:179159200-179160800	Active TSS	Rectal Smooth Muscle	rectum
45	chr5:179159200-179160800	Active TSS	Stomach Smooth Muscle	stomach
46	chr5:179159200-179160800	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr5:179159200-179161000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr5:179159200-179161000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:179159200-179161000	Active TSS	Aorta	Aorta
50	chr5:179159200-179161000	Active TSS	Duodenum Mucosa	Duodenum

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