Variant report

Variant	rs1035484
Chromosome Location	chr5:57756827-57756828
allele	C/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	MAX	chr5:57755462-57757152	HCT-116	colon:	n/a	chr5:57756022-57756031
2	CTCF	chr5:57756700-57756850	HepG2	liver:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
3	CTCF	chr5:57756700-57756850	HMEC	breast:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
4	CTCF	chr5:57756621-57756891	GM10266	blood:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
5	MAX	chr5:57755455-57756969	HepG2	liver:	n/a	chr5:57756022-57756031
6	RAD21	chr5:57754174-57757575	SK-N-SH	brain:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
7	CTCF	chr5:57756581-57756911	A549	lung:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
8	CTCF	chr5:57756680-57756830	HRPEpiC	eye:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
9	CTCF	chr5:57756740-57756890	RPTEC	kidney:	n/a	chr5:57756740-57756753
10	SMC3	chr5:57756538-57756919	K562	blood:	n/a	chr5:57756740-57756754
11	CTCF	chr5:57756624-57756865	SK-N-SH_RA	brain:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
12	MXI1	chr5:57755749-57757017	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr5:57754101-57757035	IMR90	lung:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
14	CTCF	chr5:57756700-57756850	HEEpiC	esophagus:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
15	RAD21	chr5:57755686-57757046	Hela-S3	cervix:	n/a	chr5:57756736-57756755 chr5:57755955-57755967 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
16	CTCF	chr5:57756680-57756830	GM12866	blood:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
17	CTCF	chr5:57756583-57756912	GM19240	blood:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
18	MYBL2	chr5:57756445-57756930	HepG2	liver:	n/a	n/a
19	CTCF	chr5:57756564-57756831	A549	lung:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
20	RAD21	chr5:57755489-57757166	HCT-116	colon:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
21	RAD21	chr5:57754889-57756996	SK-N-SH_RA	brain:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
22	CTCF	chr5:57756700-57756850	HRPEpiC	eye:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
23	CTCF	chr5:57756680-57756830	K562	blood:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
24	POLR2A	chr5:57745705-57757136	HUVEC	blood vessel:	n/a	n/a
25	CHD2	chr5:57754650-57756867	Hela-S3	cervix:	n/a	n/a
26	MAX	chr5:57755452-57757190	ECC-1	luminal epithelium:	n/a	chr5:57756022-57756031
27	YY1	chr5:57756596-57756837	HCT-116	colon:	n/a	chr5:57756739-57756761 chr5:57756742-57756750 chr5:57756738-57756750
28	CTCF	chr5:57755720-57757022	IMR90	lung:	n/a	chr5:57756239-57756248 chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756238-57756251 chr5:57756235-57756248 chr5:57756738-57756756 chr5:57756733-57756754
29	RAD21	chr5:57756512-57757007	GM12878	blood:	n/a	chr5:57756736-57756755 chr5:57756780-57756792 chr5:57756742-57756751
30	EP300	chr5:57754512-57757000	A549	lung:	n/a	chr5:57756094-57756103
31	POLR2A	chr5:57755671-57756895	GM19099	blood:	n/a	n/a
32	FOS	chr5:57756678-57756853	MCF10A-Er-Src	breast:	n/a	n/a
33	PBX3	chr5:57755580-57756983	SK-N-SH	brain:	n/a	chr5:57756617-57756637
34	NFIC	chr5:57755422-57756892	ECC-1	luminal epithelium:	n/a	n/a
35	ZNF143	chr5:57755248-57757041	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr5:57756700-57756850	GM12868	blood:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
37	POLR2A	chr5:57754179-57756864	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr5:57746016-57757149	HUVEC	blood vessel:	n/a	n/a
39	ATF2	chr5:57756494-57756927	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr5:57755132-57757160	MCF-7	breast:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
41	RAD21	chr5:57754545-57757114	HCT-116	colon:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
42	YY1	chr5:57756508-57756904	H1-hESC	embryonic stem cell:	n/a	chr5:57756739-57756761 chr5:57756742-57756750 chr5:57756738-57756750
43	GATA3	chr5:57756531-57756943	T-47D	breast:	n/a	n/a
44	CTCF	chr5:57756680-57756830	GM12871	blood:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
45	SP1	chr5:57755470-57757092	A549	lung:	n/a	chr5:57755998-57756010 chr5:57755999-57756008 chr5:57756227-57756236 chr5:57755957-57755968 chr5:57756000-57756009 chr5:57755954-57755968 chr5:57755958-57755967 chr5:57756622-57756631 chr5:57755999-57756008 chr5:57756226-57756235 chr5:57755998-57756010 chr5:57755999-57756009 chr5:57756620-57756632 chr5:57755957-57755969 chr5:57756621-57756630 chr5:57755946-57755957
46	E2F6	chr5:57756504-57756961	A549	lung:	n/a	n/a
47	ETS1	chr5:57755531-57756973	A549	lung:	n/a	n/a
48	SMC3	chr5:57754211-57757082	Hela-S3	cervix:	n/a	chr5:57756242-57756249 chr5:57756237-57756251 chr5:57756235-57756249 chr5:57756740-57756754
49	CTCF	chr5:57756627-57756870	GM10248	blood:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
50	FOXP2	chr5:57756140-57756856	PFSK-1	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:57756802-57756852	HIPEpiC	eye:	n/a
2	chr5:57756802-57756852	NT2-D1	testis:	n/a
3	chr5:57756802-57756852	GM12878	blood:	n/a
4	chr5:57756802-57756852	HEEpiC	esophagus:	n/a
5	chr5:57756802-57756852	HAEpiC	amniotic membrane:	n/a
6	chr5:57756802-57756852	IMR90	lung:	fetal
7	chr5:57756802-57756852	AG09319	gingival:	n/a
8	chr5:57756802-57756852	GM12891	blood:	n/a
9	chr5:57756802-57756852	H1-hESC	embryonic stem cell:	embryo
10	chr5:57756802-57756852	HCF	heart:	n/a
11	chr5:57756802-57756852	SK-N-SH_RA	brain:	n/a
12	chr5:57756802-57756852	SAEC	small airway:	n/a
13	chr5:57756802-57756852	BJ	skin:	n/a
14	chr5:57756802-57756852	A549	lung:	n/a
15	chr5:57756802-57756852	HRE	kidney:	n/a
16	chr5:57756802-57756852	U87	brain:	n/a
17	chr5:57756802-57756852	HEK293	kidney:	embryo
18	chr5:57756802-57756852	HepG2	liver:	n/a
19	chr5:57756802-57756852	BE2_C	brain:	n/a
20	chr5:57756802-57756852	LNCaP	prostate:	n/a
21	chr5:57756802-57756852	ProgFib	skin:	n/a
22	chr5:57756802-57756852	NHDF-neo	bronchial:	n/a
23	chr5:57756802-57756852	HL-60	blood:	n/a
24	chr5:57756802-57756852	HCPEpiC	choroid plexus:	n/a
25	chr5:57756802-57756852	AoSMC	blood vessel:	n/a
26	chr5:57756802-57756852	HNPCEpiC	eye:	n/a
27	chr5:57756802-57756852	HCT-116	colon:	n/a
28	chr5:57756802-57756852	MCF-7	breast:	n/a
29	chr5:57756802-57756852	HPAEpiC	pulmonary alveolar:	n/a
30	chr5:57756802-57756852	AG04450	lung:	fetal
31	chr5:57756802-57756852	ovcar-3	ovarian:	n/a
32	chr5:57756802-57756852	NH-A	brain:	n/a
33	chr5:57756802-57756852	Hela-S3	cervix:	n/a
34	chr5:57756802-57756852	HRPEpiC	eye:	n/a
35	chr5:57756802-57756852	Caco-2	colon:	n/a
36	chr5:57756802-57756852	SK-N-MC	brain:	n/a
37	chr5:57756802-57756852	RPTEC	kidney:	n/a
38	chr5:57756802-57756852	ECC-1	luminal epithelium:	n/a
39	chr5:57756802-57756852	MCF10A-Er-Src	breast:	n/a
40	chr5:57756802-57756852	CMK	blood:	n/a
41	chr5:57756802-57756852	GM19239	blood:	n/a
42	chr5:57756802-57756852	Hepatocyte	liver:	n/a
43	chr5:57756802-57756852	K562	blood:	n/a
44	chr5:57756802-57756852	Jurkat	blood:	n/a
45	chr5:57756802-57756852	NHBE	bronchial:	n/a
46	chr5:57756802-57756852	T-47D	breast:	n/a
47	chr5:57756802-57756852	HCM	heart:	n/a
48	chr5:57756802-57756852	HMEC	breast:	n/a
49	chr5:57756802-57756852	NB4	blood:	n/a
50	chr5:57756802-57756852	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:57068006..57070437-chr5:57756613..57758535,2	MCF-7	breast:
2	chr17:56707798..56710603-chr5:57755406..57757452,2	MCF-7	breast:
3	chr5:57364074..57376813-chr5:57753679..57758569,26	MCF-7	breast:
4	chr5:56946261..56947053-chr5:57756221..57757048,2	K562	blood:
5	chr5:57183468..57184088-chr5:57756668..57757203,2	MCF-7	breast:
6	chr1:11968161..11969978-chr5:57755723..57757847,2	MCF-7	breast:
7	chr5:57754652..57757569-chr8:146051207..146054086,2	MCF-7	breast:

Variant related genes	Relation type
PLK2	TF binding region
PLK2	CpG island
ENSG00000147789	Chromatin interaction
ENSG00000238899	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000199347	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1035485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1042994	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11546180	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12513877	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs12513905	0.90[AMR][1000 genomes]
rs12518781	0.84[AFR][1000 genomes]
rs12522386	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs13168504	0.87[AFR][1000 genomes]
rs13184050	0.87[AFR][1000 genomes]
rs13188849	0.87[AFR][1000 genomes]
rs16888201	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17709855	0.88[AFR][1000 genomes]
rs17710502	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs17710615	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs17767072	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2201293	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2220785	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2408946	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2408947	0.85[AMR][1000 genomes]
rs33921924	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34150563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34974449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4699926	0.87[AFR][1000 genomes]
rs4700289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55665530	0.80[EUR][1000 genomes]
rs55827457	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56010771	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs56286824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56318521	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs59135347	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs62366360	0.88[AFR][1000 genomes]
rs6450474	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6879330	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6882289	0.88[AFR][1000 genomes]
rs6890785	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72758173	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72758189	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72758190	0.80[EUR][1000 genomes]
rs72758193	0.80[EUR][1000 genomes]
rs7701530	0.87[AFR][1000 genomes]
rs7706545	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7708381	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs7725097	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7736949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs929818	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3437453	chr5:57755020-57757568	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57751600-57757000	Active TSS	Brain Hippocampus Middle	brain
2	chr5:57753600-57757000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:57754200-57757000	Active TSS	Pancreas	Pancrea
4	chr5:57754400-57757000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:57754400-57757000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:57754600-57757000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr5:57755200-57757000	Active TSS	Primary T cells from cord blood	blood
8	chr5:57755800-57757000	Active TSS	Fetal Brain Female	brain
9	chr5:57756000-57757000	Flanking Active TSS	GM12878-XiMat	blood
10	chr5:57756000-57757000	Flanking Active TSS	HMEC	breast
11	chr5:57756000-57757000	Flanking Active TSS	NH-A	brain
12	chr5:57756200-57757000	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr5:57756400-57757000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:57756600-57757000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr5:57756600-57757000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:57756600-57757000	Enhancers	Aorta	Aorta
17	chr5:57756600-57757000	Enhancers	Brain Substantia Nigra	brain
18	chr5:57756600-57757000	Enhancers	Stomach Mucosa	stomach
19	chr5:57756600-57757000	Flanking Active TSS	NHLF	lung
20	chr5:57756600-57757200	Enhancers	Fetal Brain Male	brain
21	chr5:57756800-57757000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr5:57756800-57757000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:57756800-57757000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:57756800-57757000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr5:57756800-57757000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:57756800-57757000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:57756800-57757000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:57756800-57757000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:57756800-57757000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:57756800-57757000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:57756800-57757000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:57756800-57757000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:57756800-57757000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:57756800-57757000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr5:57756800-57757000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr5:57756800-57757000	Enhancers	Primary B cells from peripheral blood	blood
37	chr5:57756800-57757000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr5:57756800-57757000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr5:57756800-57757000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:57756800-57757000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr5:57756800-57757000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr5:57756800-57757000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:57756800-57757000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr5:57756800-57757000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:57756800-57757000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr5:57756800-57757000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:57756800-57757000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr5:57756800-57757000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr5:57756800-57757000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:57756800-57757000	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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