Variant report

Variant	rs4701196
Chromosome Location	chr5:179125935-179125936
allele	A/C
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	FOS	chr5:179125281-179126096	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr5:179124743-179127945	GM12878	blood:	n/a	n/a
3	TFAP2C	chr5:179125183-179126264	Hela-S3	cervix:	n/a	n/a
4	NR2F2	chr5:179125793-179126610	K562	blood:	n/a	chr5:179126348-179126363
5	USF2	chr5:179125071-179126199	GM12878	blood:	n/a	chr5:179125994-179126007 chr5:179125996-179126005 chr5:179125964-179125980 chr5:179125995-179126006 chr5:179125997-179126006 chr5:179125956-179125972 chr5:179125996-179126005 chr5:179125995-179126004
6	TCF7L2	chr5:179125284-179126290	HCT-116	colon:	n/a	n/a
7	CREB1	chr5:179125174-179126316	H1-hESC	embryonic stem cell:	n/a	n/a
8	EBF1	chr5:179125833-179126224	GM12878	blood:	n/a	n/a
9	REST	chr5:179125879-179126171	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr5:179124762-179127291	U87	brain:	n/a	n/a
11	ETS1	chr5:179125198-179126284	A549	lung:	n/a	chr5:179125753-179125767 chr5:179125730-179125743 chr5:179125855-179125864 chr5:179125755-179125766 chr5:179125755-179125768 chr5:179126014-179126025
12	GABPA	chr5:179125521-179126014	GM12878	blood:	n/a	n/a
13	CHD2	chr5:179125317-179126223	HepG2	liver:	n/a	chr5:179125736-179125746
14	TBL1XR1	chr5:179124963-179126913	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:179124942-179127184	GM18951	blood:	n/a	n/a
16	FOS	chr5:179125609-179126053	GM12878	blood:	n/a	n/a
17	MXI1	chr5:179125029-179127865	K562	blood:	n/a	n/a
18	MAX	chr5:179125221-179126523	K562	blood:	n/a	chr5:179125996-179126005
19	JUND	chr5:179125184-179126821	K562	blood:	n/a	n/a
20	POLR2A	chr5:179124985-179127227	GM19193	blood:	n/a	n/a
21	USF1	chr5:179125739-179126134	HepG2	liver:	n/a	chr5:179125994-179126007 chr5:179125996-179126005 chr5:179125964-179125980 chr5:179125997-179126006 chr5:179125956-179125972 chr5:179125996-179126005 chr5:179125995-179126004
22	SIN3AK20	chr5:179125893-179126173	SK-N-SH	brain:	n/a	n/a
23	USF1	chr5:179125476-179126362	ECC-1	luminal epithelium:	n/a	chr5:179125994-179126007 chr5:179125996-179126005 chr5:179125964-179125980 chr5:179125997-179126006 chr5:179125956-179125972 chr5:179125996-179126005 chr5:179125995-179126004
24	E2F6	chr5:179125283-179126266	H1-hESC	embryonic stem cell:	n/a	chr5:179125391-179125401
25	CEBPZ	chr5:179125629-179126000	HepG2	liver:	n/a	n/a
26	USF1	chr5:179125847-179126111	HepG2	liver:	n/a	chr5:179125994-179126007 chr5:179125996-179126005 chr5:179125964-179125980 chr5:179125997-179126006 chr5:179125956-179125972 chr5:179125996-179126005 chr5:179125995-179126004
27	POLR2A	chr5:179125085-179126448	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr5:179125239-179126372	GM10847	blood:	n/a	n/a
29	IRF1	chr5:179124983-179126202	K562	blood:	n/a	chr5:179125678-179125692 chr5:179125877-179125891
30	CEBPB	chr5:179125325-179126026	Hela-S3	cervix:	n/a	n/a
31	SP1	chr5:179124922-179126257	A549	lung:	n/a	chr5:179125874-179125888 chr5:179125681-179125690 chr5:179125877-179125889 chr5:179125681-179125690 chr5:179125680-179125692 chr5:179125724-179125735 chr5:179125682-179125691 chr5:179125680-179125692 chr5:179125725-179125734
32	POLR2A	chr5:179124912-179127286	Hela-S3	cervix:	n/a	n/a
33	MAX	chr5:179125289-179126413	HUVEC	blood vessel:	n/a	chr5:179125996-179126005
34	REST	chr5:179125769-179126187	HepG2	liver:	n/a	n/a
35	POLR2A	chr5:179124768-179127291	U87	brain:	n/a	n/a
36	TAL1	chr5:179125911-179127898	K562	blood:	n/a	n/a
37	REST	chr5:179125893-179126103	A549	lung:	n/a	n/a
38	RAD21	chr5:179125935-179126103	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZMIZ1	chr5:179125009-179127175	K562	blood:	n/a	n/a
40	ELF1	chr5:179125119-179126309	HCT-116	colon:	n/a	chr5:179125962-179125971 chr5:179126014-179126023 chr5:179126010-179126022
41	IRF3	chr5:179125640-179126016	Hela-S3	cervix:	n/a	chr5:179125678-179125692 chr5:179125877-179125891
42	TAF1	chr5:179125130-179126502	H1-hESC	embryonic stem cell:	n/a	n/a
43	PML	chr5:179124897-179127985	K562	blood:	n/a	n/a
44	POU2F2	chr5:179125118-179126322	GM12878	blood:	n/a	chr5:179125730-179125742
45	PML	chr5:179125905-179126182	GM12878	blood:	n/a	n/a
46	NFIC	chr5:179125296-179125973	HepG2	liver:	n/a	n/a
47	ELF1	chr5:179125148-179126244	SK-N-SH	brain:	n/a	chr5:179125962-179125971 chr5:179126014-179126023 chr5:179126010-179126022
48	ZEB1	chr5:179125326-179126118	GM12878	blood:	n/a	n/a
49	USF1	chr5:179125518-179126309	SK-N-SH	brain:	n/a	chr5:179125994-179126007 chr5:179125996-179126005 chr5:179125964-179125980 chr5:179125997-179126006 chr5:179125956-179125972 chr5:179125996-179126005 chr5:179125995-179126004
50	CREB1	chr5:179125543-179126132	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179125923-179125973	NHBE	bronchial:	n/a
2	chr5:179125923-179125973	HAEpiC	amniotic membrane:	n/a
3	chr5:179125923-179125973	HCF	heart:	n/a
4	chr5:179125923-179125973	MCF10A-Er-Src	breast:	n/a
5	chr5:179125923-179125973	HUVEC	blood vessel:	n/a
6	chr5:179125923-179125973	Jurkat	blood:	n/a
7	chr5:179125923-179125973	K562	blood:	n/a
8	chr5:179125923-179125973	RPTEC	kidney:	n/a
9	chr5:179125923-179125973	SK-N-MC	brain:	n/a
10	chr5:179125923-179125973	GM12892	blood:	n/a
11	chr5:179125923-179125973	AG09309	skin:	n/a
12	chr5:179125923-179125973	AoSMC	blood vessel:	n/a
13	chr5:179125923-179125973	PFSK-1	brain:	n/a
14	chr5:179125923-179125973	HPAEpiC	pulmonary alveolar:	n/a
15	chr5:179125923-179125973	AG04449	skin:	fetal
16	chr5:179125923-179125973	GM12878	blood:	n/a
17	chr5:179125923-179125973	SKMC	muscle:	n/a
18	chr5:179125923-179125973	Hela-S3	cervix:	n/a
19	chr5:179125923-179125973	Hepatocyte	liver:	n/a
20	chr5:179125923-179125973	HCPEpiC	choroid plexus:	n/a
21	chr5:179125923-179125973	HepG2	liver:	n/a
22	chr5:179125923-179125973	AG09319	gingival:	n/a
23	chr5:179125923-179125973	ProgFib	skin:	n/a
24	chr5:179125923-179125973	T-47D	breast:	n/a
25	chr5:179125923-179125973	HCT-116	colon:	n/a
26	chr5:179125923-179125973	SK-N-SH_RA	brain:	n/a
27	chr5:179125923-179125973	U87	brain:	n/a
28	chr5:179125923-179125973	NH-A	brain:	n/a
29	chr5:179125923-179125973	AG10803	skin:	n/a
30	chr5:179125923-179125973	MCF-7	breast:	n/a
31	chr5:179125923-179125973	PANC-1	pancreas:	n/a
32	chr5:179125923-179125973	LNCaP	prostate:	n/a
33	chr5:179125923-179125973	HRPEpiC	eye:	n/a
34	chr5:179125923-179125973	BJ	skin:	n/a
35	chr5:179125923-179125973	HL-60	blood:	n/a
36	chr5:179125923-179125973	ECC-1	luminal epithelium:	n/a
37	chr5:179125923-179125973	HCM	heart:	n/a
38	chr5:179125923-179125973	HRE	kidney:	n/a
39	chr5:179125923-179125973	NHDF-neo	bronchial:	n/a
40	chr5:179125923-179125973	ovcar-3	ovarian:	n/a
41	chr5:179125923-179125973	GM19239	blood:	n/a
42	chr5:179125923-179125973	CMK	blood:	n/a
43	chr5:179125923-179125973	PrEC	prostate:	n/a
44	chr5:179125923-179125973	GM06990	blood:	n/a
45	chr5:179125923-179125973	H1-hESC	embryonic stem cell:	embryo
46	chr5:179125923-179125973	NB4	blood:	n/a
47	chr5:179125923-179125973	HRCEpiC	kidney:	n/a
48	chr5:179125923-179125973	NT2-D1	testis:	n/a
49	chr5:179125923-179125973	AG04450	lung:	fetal
50	chr5:179125923-179125973	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179125105..179126720-chr5:179232704..179234457,2	MCF-7	breast:
2	chr5:179123586..179129079-chr5:179129217..179136579,19	MCF-7	breast:
3	chr5:179123960..179129281-chr5:179231995..179235216,8	K562	blood:
4	chr5:179101962..179108661-chr5:179122383..179128408,19	MCF-7	breast:
5	chr5:179125663..179128297-chr5:179149056..179150816,2	MCF-7	breast:
6	chr5:172753236..172756194-chr5:179125387..179127082,2	MCF-7	breast:
7	chr5:178998693..179001088-chr5:179125400..179127599,2	K562	blood:
8	chr5:179125392..179128992-chr5:179244423..179246560,4	K562	blood:
9	chr5:179123960..179129252-chr5:179231413..179236095,7	K562	blood:
10	chr5:179034167..179038139-chr5:179125249..179127406,3	MCF-7	breast:
11	chr5:179040431..179043437-chr5:179125236..179127869,3	K562	blood:
12	chr5:179122850..179128148-chr5:179246584..179249342,5	K562	blood:
13	chr1:99126665..99127594-chr5:179125776..179126355,2	HCT-116	colon:
14	chr16:2014384..2015305-chr5:179125533..179126033,2	MCF-7	breast:
15	chr5:179047558..179053114-chr5:179123905..179129187,22	K562	blood:
16	chr10:75936117..75936713-chr5:179125923..179126832,2	NB4	blood:
17	chr5:178985235..178987908-chr5:179124412..179127341,2	MCF-7	breast:
18	chr14:103800084..103800961-chr5:179125512..179126144,2	NB4	blood:
19	chr5:179123896..179127851-chr5:179243560..179246560,5	K562	blood:
20	chr5:178976329..178981059-chr5:179123787..179127407,6	K562	blood:
21	chr5:179124990..179127718-chr5:179220717..179222385,2	K562	blood:
22	chr16:14723522..14724284-chr5:179125253..179126188,2	Hela-S3	cervix:
23	chr5:179124684..179126939-chr5:179285490..179289046,3	MCF-7	breast:
24	chr5:179123572..179126776-chr5:179221240..179224069,3	MCF-7	breast:
25	chr5:178976850..178979581-chr5:179125172..179127163,2	K562	blood:
26	chr5:179124597..179127055-chr5:179246139..179249577,4	MCF-7	breast:
27	chr5:179049208..179051645-chr5:179125705..179129690,6	MCF-7	breast:
28	chr5:179101603..179111989-chr5:179122927..179129527,32	MCF-7	breast:
29	chr5:179125840..179127525-chr5:179233336..179235588,2	MCF-7	breast:
30	chr5:179100838..179108153-chr5:179124449..179130181,22	K562	blood:
31	chr5:179122873..179128898-chr5:179155888..179164921,20	K562	blood:
32	chr5:179100989..179111182-chr5:179122076..179128627,19	K562	blood:
33	chr5:179124982..179127073-chr5:179245665..179248620,3	MCF-7	breast:
34	chr5:179121400..179128828-chr5:179157984..179161377,21	K562	blood:
35	chr5:179123632..179128657-chr5:179156913..179163491,14	MCF-7	breast:
36	chr5:179124533..179126912-chr5:179247842..179250922,3	K562	blood:
37	chr5:179124035..179127505-chr5:179157238..179162405,12	MCF-7	breast:
38	chr5:179045239..179052804-chr5:179123707..179130726,40	K562	blood:
39	chr5:179049048..179052854-chr5:179122221..179127718,16	MCF-7	breast:
40	chr5:179123773..179127716-chr5:179220848..179225521,8	MCF-7	breast:
41	chr5:179125142..179127664-chr5:179134818..179137175,2	MCF-7	breast:
42	chr5:179125163..179127622-chr5:179228110..179231035,2	K562	blood:

Variant related genes	Relation type
CANX	TF binding region
CANX	CpG island
ENSG00000161021	Chromatin interaction
ENSG00000140988	Chromatin interaction
ENSG00000221394	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000156110	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000113739	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000162627	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000204659	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000249140	Chromatin interaction
ENSG00000255198	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000225051	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000140694	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11738720	0.83[ASN][1000 genomes]
rs11740569	0.83[ASN][1000 genomes]
rs11746924	0.83[ASN][1000 genomes]
rs11747496	0.83[ASN][1000 genomes]
rs11749841	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4701195	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56309143	0.83[ASN][1000 genomes]
rs57551480	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62404347	0.83[ASN][1000 genomes]
rs62406695	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6601065	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6601067	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6639	0.83[ASN][1000 genomes]
rs66902084	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6893300	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72662129	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72662130	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72662131	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7715356	0.83[ASN][1000 genomes]
rs7734102	0.83[ASN][1000 genomes]
rs7735702	0.82[EUR][1000 genomes];0.83[ASN][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179124200-179127800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:179124400-179127800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr5:179124600-179126600	Active TSS	Primary T cells from cord blood	blood
4	chr5:179124600-179126800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:179124600-179127400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:179124600-179127600	Active TSS	HSMM	muscle
7	chr5:179124800-179126200	Active TSS	Brain Germinal Matrix	brain
8	chr5:179124800-179126600	Active TSS	Fetal Brain Female	brain
9	chr5:179124800-179127000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:179124800-179127000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:179124800-179127000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr5:179124800-179127000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:179124800-179127200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:179124800-179127400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr5:179124800-179127400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:179124800-179127400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr5:179124800-179127400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr5:179124800-179127400	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr5:179124800-179127400	Active TSS	Psoas Muscle	Psoas
20	chr5:179124800-179127400	Active TSS	NHEK	skin
21	chr5:179124800-179127600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:179124800-179127600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:179124800-179127600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:179124800-179127800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr5:179125000-179126800	Active TSS	Fetal Lung	lung
26	chr5:179125000-179127000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:179125000-179127000	Active TSS	Brain Hippocampus Middle	brain
28	chr5:179125000-179127000	Active TSS	Small Intestine	intestine
29	chr5:179125000-179127200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:179125000-179127200	Active TSS	Esophagus	oesophagus
31	chr5:179125000-179127200	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr5:179125000-179127200	Bivalent/Poised TSS	HepG2	liver
33	chr5:179125000-179127400	Active TSS	H9 Cell Line	embryonic stem cell
34	chr5:179125000-179127400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:179125000-179127400	Active TSS	Aorta	Aorta
36	chr5:179125000-179127400	Active TSS	Left Ventricle	heart
37	chr5:179125000-179127400	Active TSS	Right Ventricle	heart
38	chr5:179125000-179127400	Active TSS	Osteobl	bone
39	chr5:179125000-179127600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr5:179125000-179127600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:179125000-179127600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:179125000-179127600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:179125000-179127600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:179125000-179127600	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr5:179125000-179127600	Active TSS	Fetal Muscle Trunk	muscle
46	chr5:179125000-179127600	Active TSS	Lung	lung
47	chr5:179125000-179127600	Active TSS	Ovary	ovary
48	chr5:179125200-179126000	Active TSS	Dnd41	blood
49	chr5:179125200-179126400	Active TSS	Primary monocytes fromperipheralblood	blood
50	chr5:179125200-179126600	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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