Variant report

Variant	rs73344121
Chromosome Location	chr14:81894003-81894004
allele	C/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	ZMIZ1	chr14:81893514-81894518	K562	blood:	n/a	n/a
2	MYC	chr14:81893555-81894563	K562	blood:	n/a	n/a
3	MAX	chr14:81893753-81894232	Hela-S3	cervix:	n/a	n/a
4	NR2F2	chr14:81893413-81894673	K562	blood:	n/a	n/a
5	MAX	chr14:81893583-81894193	ECC-1	luminal epithelium:	n/a	n/a
6	ZC3H11A	chr14:81893886-81894227	K562	blood:	n/a	n/a
7	PML	chr14:81893640-81894556	K562	blood:	n/a	n/a
8	MAFF	chr14:81893761-81894442	K562	blood:	n/a	n/a
9	TAL1	chr14:81893342-81894713	K562	blood:	n/a	chr14:81893594-81893602
10	ZNF263	chr14:81893486-81894422	HEK293-T-REx	kidney:	n/a	n/a
11	MAX	chr14:81893307-81894494	K562	blood:	n/a	n/a
12	TEAD4	chr14:81893580-81894513	K562	blood:	n/a	n/a
13	POLR2A	chr14:81893529-81894301	K562	blood:	n/a	n/a
14	HCFC1	chr14:81893611-81894528	K562	blood:	n/a	n/a
15	NR3C1	chr14:81893618-81894062	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr14:81893369-81894410	K562	blood:	n/a	n/a
17	STAT2	chr14:81893562-81894335	K562	blood:	n/a	n/a
18	CCNT2	chr14:81893660-81894432	K562	blood:	n/a	n/a
19	POLR2A	chr14:81893576-81894489	K562	blood:	n/a	n/a
20	RCOR1	chr14:81893643-81894478	K562	blood:	n/a	n/a
21	TCF12	chr14:81893575-81894279	ECC-1	luminal epithelium:	n/a	n/a
22	ETS1	chr14:81893606-81894013	K562	blood:	n/a	chr14:81893845-81893854 chr14:81893845-81893854 chr14:81893842-81893855 chr14:81893843-81893852 chr14:81893845-81893854 chr14:81893841-81893857 chr14:81893844-81893853 chr14:81893845-81893854 chr14:81893845-81893854 chr14:81893845-81893854
23	CEBPD	chr14:81893565-81894515	K562	blood:	n/a	n/a
24	JUN	chr14:81893246-81894951	K562	blood:	n/a	chr14:81893961-81893971 chr14:81894241-81894249 chr14:81894240-81894250
25	ELK1	chr14:81893623-81894098	K562	blood:	n/a	chr14:81893845-81893854 chr14:81893845-81893854
26	JUN	chr14:81893692-81894534	K562	blood:	n/a	chr14:81893961-81893971 chr14:81894241-81894249 chr14:81894240-81894250
27	MAX	chr14:81893611-81894375	Hela-S3	cervix:	n/a	n/a
28	MYC	chr14:81893408-81894516	K562	blood:	n/a	n/a
29	UBTF	chr14:81893483-81894367	K562	blood:	n/a	n/a
30	TEAD4	chr14:81893483-81894603	K562	blood:	n/a	n/a
31	HMGN3	chr14:81893688-81894405	K562	blood:	n/a	chr14:81894242-81894251
32	CHD2	chr14:81893710-81894346	K562	blood:	n/a	n/a
33	EP300	chr14:81893073-81894547	K562	blood:	n/a	chr14:81894062-81894076 chr14:81894060-81894074 chr14:81894215-81894224
34	EP300	chr14:81893470-81894235	ECC-1	luminal epithelium:	n/a	chr14:81894062-81894076 chr14:81894060-81894074 chr14:81894215-81894224
35	ZNF143	chr14:81893626-81894565	K562	blood:	n/a	n/a
36	SMC3	chr14:81893846-81894327	Hela-S3	cervix:	n/a	n/a
37	TBL1XR1	chr14:81893080-81894498	K562	blood:	n/a	n/a
38	GATA2	chr14:81893633-81894475	K562	blood:	n/a	n/a
39	CUX1	chr14:81893614-81894490	K562	blood:	n/a	n/a
40	MAX	chr14:81893611-81894266	ECC-1	luminal epithelium:	n/a	n/a
41	TEAD4	chr14:81893604-81894149	ECC-1	luminal epithelium:	n/a	n/a
42	STAT2	chr14:81893560-81894545	K562	blood:	n/a	n/a
43	CBX3	chr14:81893467-81894459	K562	blood:	n/a	n/a
44	BHLHE40	chr14:81893565-81894439	K562	blood:	n/a	n/a
45	CEBPB	chr14:81893434-81894335	K562	blood:	n/a	n/a
46	POLR2A	chr14:81893552-81894020	K562	blood:	n/a	n/a
47	RCOR1	chr14:81893483-81894535	K562	blood:	n/a	n/a
48	PML	chr14:81893656-81894564	K562	blood:	n/a	n/a
49	CEBPB	chr14:81893628-81894484	K562	blood:	n/a	n/a
50	ELK4	chr14:81893609-81894014	Hela-S3	cervix:	n/a	chr14:81893845-81893854 chr14:81893845-81893853 chr14:81893844-81893855

No.	Distal block	Cell Line	Cell type
1	chr14:81684506..81688423-chr14:81892845..81897193,10	K562	blood:
2	chr14:81405070..81407655-chr14:81893214..81894963,2	K562	blood:
3	chr14:81685512..81688404-chr14:81891914..81896329,4	MCF-7	breast:

Variant related genes	Relation type
STON2	TF binding region
ENSG00000165417	Chromatin interaction
ENSG00000100629	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12590539	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17111794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17111815	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34922883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742551	1.00[ASN][1000 genomes]
rs3900647	1.00[EUR][1000 genomes]
rs57035224	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57980855	1.00[ASN][1000 genomes]
rs58535387	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59694925	1.00[ASN][1000 genomes]
rs59833833	1.00[ASN][1000 genomes]
rs59919809	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60733078	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73344113	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73344115	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73344119	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73344128	0.94[EUR][1000 genomes]
rs73344133	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
4	nsv510645	chr14:81874624-81907004	Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	esv1807931	chr14:81878972-81908605	Bivalent Enhancer Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	esv1842834	chr14:81878972-81908605	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	esv1844298	chr14:81878972-81908605	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:81890200-81894200	Weak transcription	Brain Substantia Nigra	brain
3	chr14:81890400-81896400	Weak transcription	Right Atrium	heart
4	chr14:81891200-81894800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:81891600-81894400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:81892600-81894600	Enhancers	Primary hematopoietic stem cells	blood
7	chr14:81892800-81898600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:81893000-81898600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:81893400-81894400	Enhancers	Brain Germinal Matrix	brain
10	chr14:81893400-81894400	Enhancers	Ovary	ovary
11	chr14:81893400-81894600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:81893400-81894600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr14:81893400-81894600	Flanking Active TSS	K562	blood
14	chr14:81893400-81894800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr14:81893400-81894800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr14:81893600-81894200	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr14:81893600-81894200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr14:81893600-81894200	Flanking Active TSS	HSMM	muscle
19	chr14:81893600-81894200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
20	chr14:81893600-81894400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:81893600-81894400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:81893600-81894400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr14:81893600-81894400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:81893600-81894400	Enhancers	Liver	Liver
25	chr14:81893600-81894400	Enhancers	Brain Hippocampus Middle	brain
26	chr14:81893600-81894400	Enhancers	Esophagus	oesophagus
27	chr14:81893600-81894400	Enhancers	Placenta	Placenta
28	chr14:81893600-81894600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr14:81893600-81894600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr14:81893600-81894600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:81893600-81894600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
32	chr14:81893600-81894600	Enhancers	Adipose Nuclei	Adipose
33	chr14:81893600-81894600	Enhancers	Fetal Kidney	kidney
34	chr14:81893600-81894600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr14:81893600-81894600	Enhancers	Stomach Mucosa	stomach
36	chr14:81893600-81894600	Enhancers	NHDF-Ad	bronchial
37	chr14:81893600-81894800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr14:81893600-81894800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr14:81893600-81894800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:81893600-81894800	Enhancers	Duodenum Mucosa	Duodenum
41	chr14:81893600-81895000	Enhancers	Spleen	Spleen
42	chr14:81893600-81895400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:81893600-81897800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:81893600-81901400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr14:81893800-81894400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:81893800-81894400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr14:81893800-81894400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr14:81893800-81894600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr14:81893800-81894600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr14:81893800-81894600	Enhancers	Cortex derived primary cultured neurospheres	brain

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