Variant report

Variant	rs2069429
Chromosome Location	chr5:68462753-68462754
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	RFX5	chr5:68462460-68463307	Hela-S3	cervix:	n/a	n/a
2	EP300	chr5:68462412-68463160	K562	blood:	n/a	chr5:68462897-68462910 chr5:68463056-68463072 chr5:68462750-68462766
3	MTA3	chr5:68462267-68463338	GM12878	blood:	n/a	n/a
4	IRF1	chr5:68462409-68463107	K562	blood:	n/a	chr5:68462411-68462420 chr5:68462821-68462835 chr5:68462560-68462574
5	MAX	chr5:68462338-68463469	ECC-1	luminal epithelium:	n/a	chr5:68462376-68462386 chr5:68462778-68462789 chr5:68462778-68462789 chr5:68462778-68462787
6	CEBPB	chr5:68462718-68463097	K562	blood:	n/a	n/a
7	ZNF143	chr5:68462485-68463420	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:68462559-68462836	SK-N-SH	brain:	n/a	n/a
9	CEBPB	chr5:68462391-68463141	GM12878	blood:	n/a	n/a
10	CTCF	chr5:68462594-68462787	Kidney_OC	kidney:	n/a	n/a
11	ZBTB33	chr5:68462456-68463129	HCT-116	colon:	n/a	n/a
12	SMC3	chr5:68462501-68463123	Hela-S3	cervix:	n/a	n/a
13	MYBL2	chr5:68462287-68463360	HepG2	liver:	n/a	n/a
14	MXI1	chr5:68462591-68463543	Hela-S3	cervix:	n/a	chr5:68462851-68462866
15	E2F6	chr5:68462352-68463387	A549	lung:	n/a	chr5:68462761-68462770
16	SIN3AK20	chr5:68462263-68464138	MCF-7	breast:	n/a	n/a
17	ELK1	chr5:68462566-68463189	K562	blood:	n/a	n/a
18	NFYB	chr5:68462630-68463691	Hela-S3	cervix:	n/a	chr5:68462882-68462897 chr5:68462885-68462899 chr5:68462914-68462929
19	MAX	chr5:68462390-68463372	SK-N-SH	brain:	n/a	chr5:68462778-68462789 chr5:68462778-68462789 chr5:68462778-68462787
20	ATF3	chr5:68462598-68462991	K562	blood:	n/a	n/a
21	MAX	chr5:68462544-68463385	H1-hESC	embryonic stem cell:	n/a	chr5:68462778-68462789 chr5:68462778-68462789 chr5:68462778-68462787
22	TEAD4	chr5:68462630-68463122	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr5:68462490-68463249	NB4	blood:	n/a	n/a
24	POLR2A	chr5:68462393-68464203	SK-N-MC	brain:	n/a	n/a
25	CTCF	chr5:68462700-68462850	GM12878	blood:	n/a	n/a
26	CREB1	chr5:68462397-68463250	HepG2	liver:	n/a	n/a
27	CTCF	chr5:68462532-68462994	GM12878	blood:	n/a	n/a
28	ETS1	chr5:68462483-68463325	A549	lung:	n/a	n/a
29	MAZ	chr5:68462331-68463917	IMR90	lung:	n/a	chr5:68462376-68462386 chr5:68462778-68462789 chr5:68462778-68462789 chr5:68462778-68462787
30	CTCF	chr5:68462680-68462830	GM12872	blood:	n/a	n/a
31	E2F4	chr5:68462256-68463931	MCF10A-Er-Src	breast:	n/a	chr5:68462761-68462770 chr5:68462842-68462853
32	FOXM1	chr5:68462291-68463891	SK-N-SH	brain:	n/a	n/a
33	EP300	chr5:68462446-68463289	HepG2	liver:	n/a	chr5:68462897-68462910 chr5:68463056-68463072 chr5:68462750-68462766
34	ZBTB33	chr5:68462748-68463022	HepG2	liver:	n/a	n/a
35	MAX	chr5:68462529-68463668	H1-hESC	embryonic stem cell:	n/a	chr5:68462778-68462789 chr5:68462778-68462789 chr5:68462778-68462787
36	ETS1	chr5:68462590-68462898	K562	blood:	n/a	n/a
37	MYC	chr5:68462597-68463189	MCF-7	breast:	n/a	chr5:68462778-68462789 chr5:68462778-68462789 chr5:68462778-68462787
38	POLR2A	chr5:68462520-68462820	GM12891	blood:	n/a	n/a
39	SRF	chr5:68462516-68463230	ECC-1	luminal epithelium:	n/a	chr5:68462825-68462835
40	POLR2A	chr5:68462329-68463669	K562	blood:	n/a	n/a
41	ELF1	chr5:68462599-68463285	K562	blood:	n/a	n/a
42	FOXM1	chr5:68462341-68463616	GM12878	blood:	n/a	n/a
43	SP1	chr5:68462680-68463189	H1-hESC	embryonic stem cell:	n/a	chr5:68462824-68462833 chr5:68462823-68462835 chr5:68462824-68462834 chr5:68462918-68462939 chr5:68462824-68462833 chr5:68462825-68462834 chr5:68462886-68462907 chr5:68462824-68462838 chr5:68462823-68462834 chr5:68462823-68462835 chr5:68462824-68462834
44	TCF12	chr5:68462551-68463145	GM12878	blood:	n/a	n/a
45	CTCF	chr5:68462680-68462830	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr5:68462499-68463609	K562	blood:	n/a	n/a
47	MXI1	chr5:68462182-68464879	SK-N-SH	brain:	n/a	chr5:68462851-68462866
48	BHLHE40	chr5:68462560-68463162	GM12878	blood:	n/a	chr5:68462745-68462761
49	USF1	chr5:68462485-68463024	A549	lung:	n/a	chr5:68462745-68462761
50	TAF1	chr5:68462442-68463746	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:68462711-68462761	ECC-1	luminal epithelium:	n/a
2	chr5:68462711-68462761	PFSK-1	brain:	n/a
3	chr5:68462711-68462761	AG09309	skin:	n/a
4	chr5:68462711-68462761	HAEpiC	amniotic membrane:	n/a
5	chr5:68462711-68462761	SAEC	small airway:	n/a
6	chr5:68462711-68462761	HPAEpiC	pulmonary alveolar:	n/a
7	chr5:68462711-68462761	SK-N-SH_RA	brain:	n/a
8	chr5:68462711-68462761	NHDF-neo	bronchial:	n/a
9	chr5:68462711-68462761	GM06990	blood:	n/a
10	chr5:68462711-68462761	HCPEpiC	choroid plexus:	n/a
11	chr5:68462711-68462761	U87	brain:	n/a
12	chr5:68462711-68462761	MCF10A-Er-Src	breast:	n/a
13	chr5:68462711-68462761	HCM	heart:	n/a
14	chr5:68462711-68462761	H1-hESC	embryonic stem cell:	embryo
15	chr5:68462711-68462761	GM12878	blood:	n/a
16	chr5:68462711-68462761	LNCaP	prostate:	n/a
17	chr5:68462711-68462761	K562	blood:	n/a
18	chr5:68462711-68462761	IMR90	lung:	fetal
19	chr5:68462711-68462761	HNPCEpiC	eye:	n/a
20	chr5:68462711-68462761	MCF-7	breast:	n/a
21	chr5:68462711-68462761	Hela-S3	cervix:	n/a
22	chr5:68462711-68462761	HIPEpiC	eye:	n/a
23	chr5:68462711-68462761	SKMC	muscle:	n/a
24	chr5:68462711-68462761	SK-N-MC	brain:	n/a
25	chr5:68462711-68462761	NH-A	brain:	n/a
26	chr5:68462711-68462761	ProgFib	skin:	n/a
27	chr5:68462711-68462761	GM19239	blood:	n/a
28	chr5:68462711-68462761	GM12891	blood:	n/a
29	chr5:68462711-68462761	GM12892	blood:	n/a
30	chr5:68462711-68462761	HL-60	blood:	n/a
31	chr5:68462711-68462761	AG04450	lung:	fetal
32	chr5:68462711-68462761	SK-N-SH	brain:	n/a
33	chr5:68462711-68462761	PANC-1	pancreas:	n/a
34	chr5:68462711-68462761	ovcar-3	ovarian:	n/a
35	chr5:68462711-68462761	Caco-2	colon:	n/a
36	chr5:68462711-68462761	AoSMC	blood vessel:	n/a
37	chr5:68462711-68462761	HRCEpiC	kidney:	n/a
38	chr5:68462711-68462761	HUVEC	blood vessel:	n/a
39	chr5:68462711-68462761	NT2-D1	testis:	n/a
40	chr5:68462711-68462761	HEK293	kidney:	embryo
41	chr5:68462711-68462761	AG10803	skin:	n/a
42	chr5:68462711-68462761	PrEC	prostate:	n/a
43	chr5:68462711-68462761	BJ	skin:	n/a
44	chr5:68462711-68462761	HMEC	breast:	n/a
45	chr5:68462711-68462761	HCT-116	colon:	n/a
46	chr5:68462711-68462761	Jurkat	blood:	n/a
47	chr5:68462711-68462761	Hepatocyte	liver:	n/a
48	chr5:68462711-68462761	HEEpiC	esophagus:	n/a
49	chr5:68462711-68462761	AG09319	gingival:	n/a
50	chr5:68462711-68462761	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr5:68461458..68463761-chr5:68512888..68515184,2	MCF-7	breast:
2	chr5:68452033..68456569-chr5:68461553..68463610,4	K562	blood:
3	chr5:68461460..68464018-chr5:68483608..68486992,6	MCF-7	breast:
4	chr5:68462470..68464043-chr5:68472593..68475057,3	MCF-7	breast:
5	chr5:68461677..68464671-chr5:68665186..68667008,2	MCF-7	breast:
6	chr5:68461899..68464283-chr5:68662357..68663862,2	K562	blood:
7	chr5:68462643..68465474-chr5:68512138..68513918,2	K562	blood:
8	chr5:68461057..68464340-chr5:68513596..68515366,3	K562	blood:
9	chr5:68461424..68464982-chr5:68663773..68666998,5	K562	blood:
10	chr5:68387785..68391337-chr5:68461261..68464730,5	K562	blood:
11	chr5:68462671..68465247-chr5:68664046..68666511,2	K562	blood:

Variant related genes	Relation type
CCNB1	TF binding region
CCNB1	CpG island
ENSG00000134056	Chromatin interaction
ENSG00000153044	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000265968	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10058852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1976102	0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2130755	1.00[EUR][1000 genomes]
rs2930947	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2930950	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2932779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2932786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2932791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2932792	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3101719	0.95[ASN][1000 genomes]
rs6877441	0.95[ASN][1000 genomes]
rs7715704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7716060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7720249	0.87[ASN][1000 genomes]
rs7729799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7734181	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68461600-68464000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:68461800-68462800	Flanking Active TSS	Dnd41	blood
3	chr5:68462000-68463600	Active TSS	Fetal Lung	lung
4	chr5:68462000-68463800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:68462000-68463800	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr5:68462200-68462800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr5:68462200-68462800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:68462200-68462800	Enhancers	Stomach Mucosa	stomach
9	chr5:68462200-68463000	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr5:68462200-68463200	Active TSS	Brain Angular Gyrus	brain
11	chr5:68462200-68463200	Active TSS	Brain Hippocampus Middle	brain
12	chr5:68462200-68463200	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr5:68462200-68463200	Active TSS	Fetal Muscle Trunk	muscle
14	chr5:68462200-68463400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:68462200-68463400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr5:68462200-68463600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:68462200-68463600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:68462200-68463600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:68462200-68463600	Active TSS	Brain Germinal Matrix	brain
20	chr5:68462200-68463600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr5:68462200-68463600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:68462200-68463600	Active TSS	Colon Smooth Muscle	Colon
23	chr5:68462200-68463600	Active TSS	K562	blood
24	chr5:68462200-68463600	Active TSS	NHLF	lung
25	chr5:68462200-68463800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:68462200-68463800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:68462200-68463800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:68462200-68463800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:68462200-68464200	Active TSS	Fetal Kidney	kidney
30	chr5:68462400-68462800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:68462400-68462800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:68462400-68462800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr5:68462400-68462800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr5:68462400-68462800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr5:68462400-68462800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:68462400-68462800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:68462400-68462800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr5:68462400-68462800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr5:68462400-68462800	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr5:68462400-68462800	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr5:68462400-68462800	Flanking Active TSS	Placenta	Placenta
42	chr5:68462400-68462800	Flanking Active TSS	Fetal Thymus	thymus
43	chr5:68462400-68462800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr5:68462400-68462800	Flanking Active TSS	GM12878-XiMat	blood
45	chr5:68462400-68462800	Flanking Active TSS	HMEC	breast
46	chr5:68462400-68462800	Flanking Active TSS	HSMM	muscle
47	chr5:68462400-68462800	Flanking Active TSS	HUVEC	blood vessel
48	chr5:68462400-68462800	Flanking Active TSS	NH-A	brain
49	chr5:68462400-68463000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr5:68462400-68463000	Active TSS	Colonic Mucosa	Colon

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