Variant report

Variant	rs73675452
Chromosome Location	chr8:42947910-42947911
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	MBD4	chr8:42947797-42948487	HepG2	liver:	n/a	n/a
2	HCFC1	chr8:42947771-42949318	Hela-S3	cervix:	n/a	n/a
3	RAD21	chr8:42947835-42949349	SK-N-SH	brain:	n/a	chr8:42948590-42948602 chr8:42948585-42948604 chr8:42948590-42948600 chr8:42948665-42948678 chr8:42948588-42948601
4	MAX	chr8:42947646-42949396	A549	lung:	n/a	n/a
5	MAX	chr8:42947764-42949200	ECC-1	luminal epithelium:	n/a	n/a
6	CTCF	chr8:42947729-42949319	A549	lung:	n/a	chr8:42948584-42948602 chr8:42948587-42948600
7	E2F6	chr8:42947742-42949234	A549	lung:	n/a	chr8:42948639-42948648
8	RELA	chr8:42947828-42949485	GM18951	blood:	n/a	n/a
9	STAT3	chr8:42947844-42948258	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr8:42947886-42949292	SK-N-SH	brain:	n/a	n/a
11	MAZ	chr8:42947728-42949680	IMR90	lung:	n/a	n/a
12	MAX	chr8:42947869-42949271	SK-N-SH	brain:	n/a	n/a
13	MAX	chr8:42947901-42949318	HCT-116	colon:	n/a	n/a
14	TCF12	chr8:42947885-42949247	ECC-1	luminal epithelium:	n/a	chr8:42948594-42948604 chr8:42948085-42948092
15	CTCF	chr8:42947760-42947910	GM12865	blood:	n/a	n/a
16	E2F6	chr8:42947754-42948822	H1-hESC	embryonic stem cell:	n/a	chr8:42948639-42948648
17	MYC	chr8:42947832-42948232	MCF10A-Er-Src	breast:	n/a	n/a
18	MXI1	chr8:42947426-42949726	SK-N-SH	brain:	n/a	n/a
19	PML	chr8:42947858-42949346	GM12878	blood:	n/a	n/a
20	USF2	chr8:42947836-42948222	Hela-S3	cervix:	n/a	n/a
21	ZNF384	chr8:42947858-42947975	GM12878	blood:	n/a	n/a
22	MAX	chr8:42947668-42949329	A549	lung:	n/a	n/a
23	MAX	chr8:42947552-42949339	HepG2	liver:	n/a	n/a
24	MAX	chr8:42947906-42949055	H1-hESC	embryonic stem cell:	n/a	n/a
25	HEY1	chr8:42947584-42948251	HepG2	liver:	n/a	n/a
26	KAP1	chr8:42947895-42949103	HEK293	kidney:	n/a	n/a
27	SMC3	chr8:42947792-42949264	SK-N-SH	brain:	n/a	chr8:42948586-42948600 chr8:42948590-42948600
28	POLR2A	chr8:42947789-42949190	HepG2	liver:	n/a	n/a
29	MAX	chr8:42947783-42949332	ECC-1	luminal epithelium:	n/a	n/a
30	CTCF	chr8:42947880-42948030	GM12869	blood:	n/a	n/a
31	CTCF	chr8:42947677-42949415	SK-N-SH	brain:	n/a	chr8:42948584-42948602 chr8:42948587-42948600
32	MAX	chr8:42947909-42948792	H1-hESC	embryonic stem cell:	n/a	n/a
33	TCF12	chr8:42947760-42949323	A549	lung:	n/a	chr8:42948594-42948604 chr8:42948085-42948092

No.	Distal block	Cell Line	Cell type
1	chr8:42927886..42930381-chr8:42946144..42948711,2	K562	blood:
2	chr8:42945671..42948115-chr8:43050500..43053083,2	K562	blood:
3	chr8:42947421..42949412-chr8:43129646..43132331,3	K562	blood:
4	chr8:42909717..42915258-chr8:42945286..42950388,10	K562	blood:
5	chr8:42947110..42950521-chr8:43131245..43133918,5	K562	blood:
6	chr8:42946558..42950569-chr8:42993092..42998053,7	MCF-7	breast:
7	chr8:42945466..42950308-chr8:42993029..42998171,6	K562	blood:
8	chr8:42947374..42951238-chr8:42993087..42998137,7	MCF-7	breast:
9	chr8:42946276..42950766-chr8:42994093..42997306,5	K562	blood:

Variant related genes	Relation type
POMK	TF binding region
ENSG00000253486	Chromatin interaction
ENSG00000200731	Chromatin interaction
ENSG00000168522	Chromatin interaction
ENSG00000234713	Chromatin interaction
ENSG00000165102	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs16891648	1.00[AMR][1000 genomes]
rs16891652	1.00[AMR][1000 genomes]
rs16891654	1.00[AMR][1000 genomes]
rs16891682	1.00[AMR][1000 genomes]
rs16891686	1.00[AMR][1000 genomes]
rs16891699	1.00[AMR][1000 genomes]
rs16891701	1.00[AMR][1000 genomes]
rs16891704	1.00[AMR][1000 genomes]
rs35959188	0.88[AFR][1000 genomes]
rs55636430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55745135	1.00[AMR][1000 genomes]
rs55870161	1.00[AMR][1000 genomes]
rs55908519	1.00[AMR][1000 genomes]
rs55959405	1.00[AMR][1000 genomes]
rs56313744	1.00[AMR][1000 genomes]
rs56384848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56789342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57012672	1.00[AMR][1000 genomes]
rs57180588	1.00[AMR][1000 genomes]
rs57279972	1.00[AMR][1000 genomes]
rs57354259	1.00[AMR][1000 genomes]
rs57713224	1.00[AMR][1000 genomes]
rs57746820	1.00[AMR][1000 genomes]
rs57798571	1.00[AMR][1000 genomes]
rs58729340	1.00[AMR][1000 genomes]
rs59139251	1.00[AMR][1000 genomes]
rs59320956	1.00[AMR][1000 genomes]
rs60259766	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60491458	1.00[AMR][1000 genomes]
rs60748981	1.00[AMR][1000 genomes]
rs60960611	1.00[AMR][1000 genomes]
rs61356971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61468554	1.00[AMR][1000 genomes]
rs73675437	1.00[AMR][1000 genomes]
rs73675439	1.00[AMR][1000 genomes]
rs73675443	1.00[AMR][1000 genomes]
rs73675448	1.00[AMR][1000 genomes]
rs73675449	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73675450	1.00[AMR][1000 genomes]
rs73675454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73675457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73675458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73675460	1.00[AMR][1000 genomes]
rs73675461	1.00[AMR][1000 genomes]
rs73675463	1.00[AMR][1000 genomes]
rs73675464	1.00[AMR][1000 genomes]
rs73675466	1.00[AMR][1000 genomes]
rs73675467	1.00[AMR][1000 genomes]
rs73675468	1.00[AMR][1000 genomes]
rs73675469	1.00[AMR][1000 genomes]
rs73675470	1.00[AMR][1000 genomes]
rs73675473	1.00[AMR][1000 genomes]
rs73675475	1.00[AMR][1000 genomes]
rs73675476	1.00[AMR][1000 genomes]
rs73675478	1.00[AMR][1000 genomes]
rs73675493	1.00[AMR][1000 genomes]
rs73675496	1.00[AMR][1000 genomes]
rs73677927	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1025336	chr8:42905623-43333638	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
13	nsv539564	chr8:42905623-43333638	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
14	nsv831302	chr8:42909483-43105520	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv1029380	chr8:42924737-43729296	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
16	nsv539565	chr8:42924737-43729296	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
17	nsv1021734	chr8:42936943-43824036	Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv470208	chr8:42937608-43791691	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
19	nsv1021100	chr8:42938287-43333639	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
20	nsv539566	chr8:42938287-43333639	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
21	nsv1035031	chr8:42940043-43575771	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
22	nsv1031842	chr8:42940043-43729296	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42912800-42948000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:42941600-42948000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:42941600-42948000	Weak transcription	Lung	lung
4	chr8:42941600-42948000	Weak transcription	Small Intestine	intestine
5	chr8:42941800-42948000	Weak transcription	Spleen	Spleen
6	chr8:42942400-42948000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:42943400-42948000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:42946400-42949600	Active TSS	Rectal Smooth Muscle	rectum
9	chr8:42947000-42948400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:42947000-42948600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:42947000-42949600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr8:42947000-42949800	Active TSS	Brain Anterior Caudate	brain
13	chr8:42947200-42948000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:42947200-42948400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr8:42947200-42948600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr8:42947200-42948600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:42947200-42948800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:42947200-42949600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:42947200-42949600	Active TSS	Fetal Brain Female	brain
20	chr8:42947200-42949800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr8:42947200-42950000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:42947200-42950000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:42947200-42950000	Active TSS	Right Atrium	heart
24	chr8:42947200-42950000	Active TSS	NHDF-Ad	bronchial
25	chr8:42947200-42950800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:42947200-42950800	Active TSS	NHLF	lung
27	chr8:42947400-42948000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:42947400-42948000	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr8:42947400-42948400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr8:42947400-42949600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:42947400-42949600	Active TSS	A549	lung
32	chr8:42947400-42949600	Active TSS	HepG2	liver
33	chr8:42947400-42949800	Active TSS	Fetal Intestine Small	intestine
34	chr8:42947400-42950000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:42947400-42950000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:42947600-42948000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:42947600-42948000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
38	chr8:42947600-42948000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr8:42947600-42948000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:42947600-42948000	Active TSS	Placenta	Placenta
41	chr8:42947600-42948000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr8:42947600-42948200	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr8:42947600-42948200	Flanking Active TSS	HSMMtube	muscle
44	chr8:42947600-42948400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr8:42947600-42948400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr8:42947600-42948400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:42947600-42948400	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr8:42947600-42948400	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr8:42947600-42948400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
50	chr8:42947600-42948600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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