Variant report

Variant	rs10080080
Chromosome Location	chr5:178286532-178286533
allele	G/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	MAX	chr5:178286470-178287605	A549	lung:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
2	MXI1	chr5:178286492-178287630	IMR90	lung:	n/a	n/a
3	MXI1	chr5:178286361-178287362	GM12878	blood:	n/a	n/a
4	MAX	chr5:178286398-178287503	HCT-116	colon:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
5	STAT3	chr5:178286259-178287163	MCF10A-Er-Src	breast:	n/a	chr5:178286890-178286913 chr5:178286905-178286913
6	POLR2A	chr5:178286494-178287362	HUVEC	blood vessel:	n/a	n/a
7	MXI1	chr5:178286169-178287627	SK-N-SH	brain:	n/a	n/a
8	MAX	chr5:178286449-178287615	HepG2	liver:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
9	MAX	chr5:178286514-178287417	HCT-116	colon:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
10	HCFC1	chr5:178286386-178287648	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr5:178286504-178287357	HCT-116	colon:	n/a	n/a
12	TBL1XR1	chr5:178286154-178287328	K562	blood:	n/a	n/a
13	MAFK	chr5:178286203-178286544	HepG2	liver:	n/a	chr5:178286375-178286390
14	MAZ	chr5:178286496-178287636	IMR90	lung:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
15	SIN3AK20	chr5:178286490-178287339	MCF-7	breast:	n/a	n/a
16	SETDB1	chr5:178286288-178286902	U2OS	brain:	n/a	n/a
17	MAFK	chr5:178286280-178286850	IMR90	lung:	n/a	chr5:178286375-178286390
18	EGR1	chr5:178286404-178287300	HCT-116	colon:	n/a	chr5:178286728-178286738 chr5:178286722-178286744 chr5:178286897-178286921 chr5:178286728-178286739 chr5:178286728-178286737 chr5:178286727-178286740 chr5:178286724-178286738 chr5:178286726-178286741 chr5:178286728-178286739 chr5:178286727-178286740 chr5:178286728-178286738 chr5:178287212-178287222 chr5:178286726-178286740 chr5:178287157-178287167 chr5:178286727-178286740
19	POLR2A	chr5:178286469-178287568	MCF10A-Er-Src	breast:	n/a	n/a
20	SIX5	chr5:178286532-178287299	A549	lung:	n/a	chr5:178286896-178286910 chr5:178286900-178286909 chr5:178286898-178286907
21	MAX	chr5:178286429-178287597	MCF-7	breast:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
22	ELF1	chr5:178286482-178287229	HCT-116	colon:	n/a	chr5:178287183-178287195 chr5:178287145-178287157
23	MYC	chr5:178286286-178287278	MCF10A-Er-Src	breast:	n/a	chr5:178287186-178287196 chr5:178286729-178286738
24	MYC	chr5:178286486-178287478	K562	blood:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
25	MAFK	chr5:178286363-178287062	K562	blood:	n/a	chr5:178286375-178286390
26	BHLHE40	chr5:178286530-178287352	GM12878	blood:	n/a	chr5:178287282-178287298 chr5:178287277-178287293
27	EGR1	chr5:178286495-178287253	MCF-7	breast:	n/a	chr5:178286728-178286738 chr5:178286722-178286744 chr5:178286897-178286921 chr5:178286728-178286739 chr5:178286728-178286737 chr5:178286727-178286740 chr5:178286724-178286738 chr5:178286726-178286741 chr5:178286728-178286739 chr5:178286727-178286740 chr5:178286728-178286738 chr5:178287212-178287222 chr5:178286726-178286740 chr5:178287157-178287167 chr5:178286727-178286740
28	POLR2A	chr5:178286486-178287928	SK-N-MC	brain:	n/a	n/a
29	EGR1	chr5:178286350-178287317	HCT-116	colon:	n/a	chr5:178286728-178286738 chr5:178286722-178286744 chr5:178286897-178286921 chr5:178286728-178286739 chr5:178286728-178286737 chr5:178286727-178286740 chr5:178286724-178286738 chr5:178286726-178286741 chr5:178286728-178286739 chr5:178286727-178286740 chr5:178286728-178286738 chr5:178287212-178287222 chr5:178286726-178286740 chr5:178287157-178287167 chr5:178286727-178286740
30	EGR1	chr5:178286415-178287016	MCF-7	breast:	n/a	chr5:178286728-178286738 chr5:178286722-178286744 chr5:178286897-178286921 chr5:178286728-178286739 chr5:178286728-178286737 chr5:178286727-178286740 chr5:178286724-178286738 chr5:178286726-178286741 chr5:178286728-178286739 chr5:178286727-178286740 chr5:178286728-178286738 chr5:178286726-178286740 chr5:178286727-178286740
31	MAX	chr5:178286412-178287619	A549	lung:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
32	MAFK	chr5:178286207-178287079	HepG2	liver:	n/a	chr5:178286375-178286390
33	RFX5	chr5:178286530-178287494	Hela-S3	cervix:	n/a	n/a
34	MAZ	chr5:178286322-178287269	GM12878	blood:	n/a	chr5:178287186-178287196 chr5:178286729-178286738
35	MYC	chr5:178286255-178287164	MCF10A-Er-Src	breast:	n/a	chr5:178286729-178286738
36	ZNF143	chr5:178286527-178287211	K562	blood:	n/a	chr5:178286898-178286916 chr5:178286900-178286909 chr5:178286898-178286907
37	STAT3	chr5:178286491-178287178	MCF10A-Er-Src	breast:	n/a	chr5:178286890-178286913 chr5:178286905-178286913

No.	Distal block	Cell Line	Cell type
1	chr5:178154802..178159439-chr5:178284936..178288781,7	MCF-7	breast:
2	chr5:178053391..178055177-chr5:178285758..178288394,2	MCF-7	breast:
3	chr5:178157446..178157947-chr5:178286420..178286940,2	MCF-7	breast:
4	chr5:178157412..178158250-chr5:178286406..178286923,4	MCF-7	breast:
5	chr5:178285646..178289279-chr5:178321547..178324884,4	MCF-7	breast:
6	chr5:178156014..178158845-chr5:178285994..178289826,5	MCF-7	breast:

Variant related genes	Relation type
ZNF354B	TF binding region
ENSG00000198939	Chromatin interaction
ENSG00000169131	Chromatin interaction
ENSG00000113240	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10073016	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10479514	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7446382	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883218	chr5:178219855-178349391	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv462574	chr5:178269682-178313078	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv600463	chr5:178269682-178313078	Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv823352	chr5:178279625-178296623	Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178282000-178286600	Weak transcription	Placenta	Placenta
2	chr5:178282400-178286600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:178284200-178286600	Weak transcription	HSMMtube	muscle
4	chr5:178285800-178286800	Flanking Active TSS	Dnd41	blood
5	chr5:178286000-178286600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr5:178286000-178287600	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr5:178286000-178288400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:178286200-178286600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:178286200-178286600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:178286200-178286600	Enhancers	Brain Cingulate Gyrus	brain
11	chr5:178286200-178286800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr5:178286200-178286800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr5:178286200-178287600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:178286200-178287600	Active TSS	Stomach Mucosa	stomach
15	chr5:178286200-178287600	Active TSS	A549	lung
16	chr5:178286200-178287800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr5:178286400-178286600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:178286400-178286600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:178286400-178286600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:178286400-178286600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:178286400-178286600	Enhancers	Primary B cells from peripheral blood	blood
22	chr5:178286400-178286600	Active TSS	Primary T cells fromperipheralblood	blood
23	chr5:178286400-178286600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr5:178286400-178286600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:178286400-178286600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:178286400-178286600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:178286400-178286600	Enhancers	Brain Substantia Nigra	brain
28	chr5:178286400-178286600	Enhancers	Fetal Intestine Large	intestine
29	chr5:178286400-178286600	Enhancers	Fetal Kidney	kidney
30	chr5:178286400-178286600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr5:178286400-178286600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr5:178286400-178286600	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr5:178286400-178286600	Flanking Active TSS	HMEC	breast
34	chr5:178286400-178286600	Flanking Active TSS	K562	blood
35	chr5:178286400-178286600	Enhancers	NHEK	skin
36	chr5:178286400-178286800	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr5:178286400-178286800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr5:178286400-178286800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr5:178286400-178286800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr5:178286400-178286800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr5:178286400-178286800	Active TSS	Right Atrium	heart
42	chr5:178286400-178286800	Flanking Active TSS	Hela-S3	cervix
43	chr5:178286400-178286800	Flanking Active TSS	HUVEC	blood vessel
44	chr5:178286400-178287200	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr5:178286400-178287400	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr5:178286400-178287600	Active TSS	Liver	Liver
47	chr5:178286400-178287600	Active TSS	GM12878-XiMat	blood
48	chr5:178286400-178287800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:178286400-178287800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:178286400-178287800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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