Variant report

Variant	rs386508599
Chromosome Location	chr14:72490843-72490844
allele	lengthTooLong
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	CTCF	chr14:72490840-72490990	AG04449	skin:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
2	CTCF	chr14:72490820-72490970	NHEK	skin:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
3	CTCF	chr14:72490760-72490910	GM12874	blood:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906
4	CTCF	chr14:72490800-72490950	AG04450	lung:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
5	RAD21	chr14:72490689-72491098	H1-hESC	embryonic stem cell:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
6	CTCF	chr14:72490840-72490990	GM12867	blood:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
7	RAD21	chr14:72490748-72491060	HepG2	liver:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
8	RAD21	chr14:72490679-72491198	MCF-7	breast:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
9	IRF4	chr14:72490650-72491166	GM12878	blood:	n/a	n/a
10	RAD21	chr14:72490748-72490966	SK-N-SH_RA	brain:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
11	CTCF	chr14:72490840-72490990	GM12873	blood:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
12	CTCF	chr14:72490780-72490930	GM12872	blood:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
13	CTCF	chr14:72490744-72491034	H1-hESC	embryonic stem cell:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
14	CTCF	chr14:72490709-72491023	Spleen_OC	spleen:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
15	CTCF	chr14:72490840-72490990	HVMF	connective:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
16	CTCF	chr14:72490711-72491031	Medullo	brain:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
17	CTCF	chr14:72490616-72491124	GM12878	blood:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
18	CTCF	chr14:72490756-72491011	MCF-7	breast:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
19	CTCF	chr14:72490840-72490990	GM12872	blood:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
20	CTCF	chr14:72490840-72490990	Hela-S3	cervix:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
21	CTCF	chr14:72490724-72491068	T-47D	breast:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
22	RAD21	chr14:72490610-72491085	GM12878	blood:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
23	FOS	chr14:72489646-72491051	MCF10A-Er-Src	breast:	n/a	chr14:72490362-72490373 chr14:72490367-72490374 chr14:72490369-72490381 chr14:72490366-72490374
24	CTCF	chr14:72490820-72490970	GM12868	blood:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
25	CTCF	chr14:72490780-72490930	HMF	breast:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
26	SMC3	chr14:72490728-72491011	Hela-S3	cervix:	n/a	chr14:72490892-72490900 chr14:72490892-72490906
27	CTCF	chr14:72490840-72490990	A549	lung:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
28	CTCF	chr14:72490840-72490990	HA-sp	spinal cord:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
29	CTCF	chr14:72490820-72490970	HPF	lung:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
30	TBP	chr14:72490709-72490969	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr14:72490764-72491045	Gliobla	brain:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
32	CTCF	chr14:72490720-72490870	HFF	foreskin:	n/a	n/a
33	CTCF	chr14:72490760-72491010	ProgFib	skin:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
34	CTCF	chr14:72490820-72490970	HRPEpiC	eye:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
35	ZNF143	chr14:72490717-72491070	GM12878	blood:	n/a	n/a
36	CTCF	chr14:72490829-72491061	GM19238	blood:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
37	CTCF	chr14:72490800-72490950	GM12878	blood:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
38	CTCF	chr14:72490760-72490995	GM13977	blood:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
39	CTCF	chr14:72490780-72490930	HCFaa	heart:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
40	CTCF	chr14:72490720-72490870	AG04450	lung:	n/a	n/a
41	CTCF	chr14:72490840-72490990	GM12875	blood:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
42	CTCF	chr14:72490776-72491034	GM10248	blood:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
43	RAD21	chr14:72490459-72491291	HCT-116	colon:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
44	CTCF	chr14:72490714-72491081	K562	blood:	n/a	chr14:72490893-72490902 chr14:72490892-72490913 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490891-72490907
45	FOSL1	chr14:72489497-72491200	HCT-116	colon:	n/a	chr14:72490362-72490373 chr14:72490367-72490374 chr14:72490369-72490381 chr14:72490366-72490374
46	CTCF	chr14:72490830-72490972	SK-N-SH_RA	brain:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
47	CTCF	chr14:72490760-72490910	HPF	lung:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906
48	CTCF	chr14:72490800-72490950	GM12874	blood:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
49	CTCF	chr14:72490840-72490990	GM12871	blood:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
50	MAFK	chr14:72490743-72490930	H1-hESC	embryonic stem cell:	n/a	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
ENSG00000182732	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
6	esv3421363	chr14:72490780-72490848	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1245851	chr14:72490793-72490843	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv85657	chr14:72490794-72490843	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3486834	chr14:72490794-72490844	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 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	chr14:72490200-72491200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr14:72490200-72491200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr14:72490200-72491600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:72490400-72491200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:72490400-72491200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:72490400-72491200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr14:72490400-72491200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr14:72490400-72491200	Enhancers	Left Ventricle	heart
15	chr14:72490600-72491200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr14:72490800-72491200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr14:72490800-72491200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:72490800-72491400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:72490800-72491600	Enhancers	NHEK	skin

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