Variant report

Variant	rs542536451
Chromosome Location	chr14:72490725-72490726
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	RAD21	chr14:72490689-72491098	H1-hESC	embryonic stem cell:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
2	RAD21	chr14:72490679-72491198	MCF-7	breast:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
3	IRF4	chr14:72490650-72491166	GM12878	blood:	n/a	n/a
4	CTCF	chr14:72490709-72491023	Spleen_OC	spleen:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
5	CTCF	chr14:72490711-72491031	Medullo	brain:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
6	CTCF	chr14:72490680-72490830	HCT-116	colon:	n/a	n/a
7	CTCF	chr14:72490616-72491124	GM12878	blood:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
8	CTCF	chr14:72490724-72491068	T-47D	breast:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
9	RAD21	chr14:72490610-72491085	GM12878	blood:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
10	FOS	chr14:72489646-72491051	MCF10A-Er-Src	breast:	n/a	chr14:72490362-72490373 chr14:72490367-72490374 chr14:72490369-72490381 chr14:72490366-72490374
11	TBP	chr14:72490709-72490969	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr14:72490720-72490870	HFF	foreskin:	n/a	n/a
13	ZNF143	chr14:72490717-72491070	GM12878	blood:	n/a	n/a
14	CTCF	chr14:72490720-72490870	AG04450	lung:	n/a	n/a
15	RAD21	chr14:72490459-72491291	HCT-116	colon:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
16	CTCF	chr14:72490714-72491081	K562	blood:	n/a	chr14:72490893-72490902 chr14:72490892-72490913 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490891-72490907
17	FOSL1	chr14:72489497-72491200	HCT-116	colon:	n/a	chr14:72490362-72490373 chr14:72490367-72490374 chr14:72490369-72490381 chr14:72490366-72490374
18	RAD21	chr14:72490525-72491235	HCT-116	colon:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
19	CTCF	chr14:72490600-72490750	K562	blood:	n/a	n/a
20	RAD21	chr14:72490691-72491165	A549	lung:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
21	E2F4	chr14:72489869-72491104	MCF10A-Er-Src	breast:	n/a	n/a
22	CTCF	chr14:72490620-72490770	GM12870	blood:	n/a	n/a
23	CTCF	chr14:72490608-72491176	MCF-7	breast:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
24	CTCF	chr14:72490523-72491217	A549	lung:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
25	CTCF	chr14:72490600-72490750	HCM	heart:	n/a	n/a
26	CTCF	chr14:72490664-72491024	HepG2	liver:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
27	RAD21	chr14:72490724-72491058	HepG2	liver:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
28	JUND	chr14:72489578-72491148	HCT-116	colon:	n/a	chr14:72490362-72490373 chr14:72490367-72490374 chr14:72490089-72490100 chr14:72490369-72490381 chr14:72490039-72490050 chr14:72490366-72490374
29	RAD21	chr14:72490597-72491172	H1-hESC	embryonic stem cell:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
30	RAD21	chr14:72490531-72491190	H1-hESC	embryonic stem cell:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
31	PML	chr14:72489726-72491399	GM12878	blood:	n/a	chr14:72490251-72490259
32	CTCF	chr14:72490551-72491274	MCF-7	breast:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
33	RAD21	chr14:72490668-72491289	GM12878	blood:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
34	MYC	chr14:72490662-72490834	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr14:72489676-72491241	GM12878	blood:	n/a	chr14:72490500-72490512
36	RAD21	chr14:72490699-72491007	HepG2	liver:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
37	RAD21	chr14:72490708-72491024	SK-N-SH_RA	brain:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
38	RAD21	chr14:72490721-72491066	GM12878	blood:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
39	RUNX3	chr14:72489833-72491601	GM12878	blood:	n/a	n/a
40	CTCF	chr14:72490721-72491064	IMR90	lung:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
41	RAD21	chr14:72490652-72491163	MCF-7	breast:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
42	CTCF	chr14:72490580-72490730	HPF	lung:	n/a	n/a
43	CTCF	chr14:72490720-72490870	RPTEC	kidney:	n/a	n/a
44	SMC3	chr14:72490665-72491194	GM12878	blood:	n/a	chr14:72490892-72490900 chr14:72490892-72490906
45	CTCF	chr14:72490520-72491236	HCT-116	colon:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
46	CTCF	chr14:72490620-72490770	HCPEpiC	choroid plexus:	n/a	n/a
47	SMC3	chr14:72490650-72491092	HepG2	liver:	n/a	chr14:72490892-72490900 chr14:72490892-72490906
48	CTCF	chr14:72490660-72490810	WI-38	lung:	n/a	n/a
49	CTCF	chr14:72490459-72491316	SK-N-SH	brain:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
50	JUND	chr14:72490116-72491025	H1-hESC	embryonic stem cell:	n/a	chr14:72490362-72490373 chr14:72490367-72490374 chr14:72490369-72490381 chr14:72490366-72490374

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:72490712-72490762	H1-hESC	embryonic stem cell:	embryo
2	chr14:72490712-72490762	GM06990	blood:	n/a
3	chr14:72490712-72490762	MCF10A-Er-Src	breast:	n/a
4	chr14:72490712-72490762	ProgFib	skin:	n/a
5	chr14:72490712-72490762	AoSMC	blood vessel:	n/a
6	chr14:72490712-72490762	RPTEC	kidney:	n/a
7	chr14:72490712-72490762	MCF-7	breast:	n/a
8	chr14:72490712-72490762	SK-N-SH_RA	brain:	n/a
9	chr14:72490712-72490762	AG04450	lung:	fetal
10	chr14:72490712-72490762	SAEC	small airway:	n/a
11	chr14:72490712-72490762	HCF	heart:	n/a
12	chr14:72490712-72490762	NT2-D1	testis:	n/a
13	chr14:72490712-72490762	PFSK-1	brain:	n/a
14	chr14:72490712-72490762	NHBE	bronchial:	n/a
15	chr14:72490712-72490762	GM12892	blood:	n/a
16	chr14:72490712-72490762	Jurkat	blood:	n/a
17	chr14:72490712-72490762	AG04449	skin:	fetal
18	chr14:72490712-72490762	A549	lung:	n/a
19	chr14:72490712-72490762	SK-N-SH	brain:	n/a
20	chr14:72490712-72490762	IMR90	lung:	fetal
21	chr14:72490712-72490762	HEK293	kidney:	embryo
22	chr14:72490712-72490762	PANC-1	pancreas:	n/a
23	chr14:72490712-72490762	HCT-116	colon:	n/a
24	chr14:72490712-72490762	HCM	heart:	n/a
25	chr14:72490712-72490762	K562	blood:	n/a
26	chr14:72490712-72490762	Hepatocyte	liver:	n/a
27	chr14:72490712-72490762	HUVEC	blood vessel:	n/a
28	chr14:72490712-72490762	CMK	blood:	n/a
29	chr14:72490712-72490762	BE2_C	brain:	n/a
30	chr14:72490712-72490762	GM12891	blood:	n/a
31	chr14:72490712-72490762	ovcar-3	ovarian:	n/a
32	chr14:72490712-72490762	HMEC	breast:	n/a
33	chr14:72490712-72490762	HCPEpiC	choroid plexus:	n/a
34	chr14:72490712-72490762	U87	brain:	n/a
35	chr14:72490712-72490762	SKMC	muscle:	n/a
36	chr14:72490712-72490762	HRCEpiC	kidney:	n/a
37	chr14:72490712-72490762	HAEpiC	amniotic membrane:	n/a
38	chr14:72490712-72490762	LNCaP	prostate:	n/a
39	chr14:72490712-72490762	HRPEpiC	eye:	n/a
40	chr14:72490712-72490762	AG09309	skin:	n/a
41	chr14:72490712-72490762	Caco-2	colon:	n/a
42	chr14:72490712-72490762	NH-A	brain:	n/a
43	chr14:72490712-72490762	HIPEpiC	eye:	n/a
44	chr14:72490712-72490762	NHDF-neo	bronchial:	n/a
45	chr14:72490712-72490762	HPAEpiC	pulmonary alveolar:	n/a
46	chr14:72490712-72490762	PrEC	prostate:	n/a
47	chr14:72490712-72490762	Hela-S3	cervix:	n/a
48	chr14:72490712-72490762	ECC-1	luminal epithelium:	n/a
49	chr14:72490712-72490762	GM19239	blood:	n/a
50	chr14:72490712-72490762	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:72482931..72485550-chr14:72489530..72491362,2	MCF-7	breast:
2	chr14:72489255..72491408-chr14:72757396..72759777,2	MCF-7	breast:
3	chr14:72490629..72491408-chr14:72758856..72759783,5	MCF-7	breast:
4	chr14:72490617..72491401-chr14:72887032..72887742,2	K562	blood:
5	chr14:72398692..72399639-chr14:72490586..72491393,3	MCF-7	breast:
6	chr14:72490402..72491111-chr14:72887191..72887990,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200298	TF binding region
ENSG00000200298	CpG island
ENSG00000182732	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1053520	chr14:72485195-72537202	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1941080	chr14:72490613-72491036	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3486833	chr14:72490680-72490908	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72489200-72491000	Enhancers	HMEC	breast
2	chr14:72489600-72491200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:72489600-72491200	Enhancers	Adipose Nuclei	Adipose
4	chr14:72489600-72491200	Enhancers	GM12878-XiMat	blood
5	chr14:72489800-72491600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr14:72490000-72494800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:72490200-72490800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:72490200-72490800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr14:72490200-72490800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:72490200-72490800	Enhancers	Fetal Muscle Leg	muscle
11	chr14:72490200-72490800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr14:72490200-72490800	Flanking Active TSS	NHEK	skin
13	chr14:72490200-72491200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr14:72490200-72491200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr14:72490200-72491600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:72490400-72490800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr14:72490400-72490800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:72490400-72491200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:72490400-72491200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:72490400-72491200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr14:72490400-72491200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr14:72490400-72491200	Enhancers	Left Ventricle	heart
23	chr14:72490600-72491200	Enhancers	H9 Cell Line	embryonic stem cell

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