Variant report

Variant	rs11850924
Chromosome Location	chr14:24560020-24560021
allele	A/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	TCF3	chr14:24559810-24560030	GM12878	blood:	n/a	n/a
2	RAD21	chr14:24559487-24560175	HCT-116	colon:	n/a	chr14:24559904-24559923 chr14:24559907-24559920 chr14:24559906-24559918 chr14:24559937-24559951 chr14:24559908-24559918
3	RCOR1	chr14:24559671-24560056	HepG2	liver:	n/a	n/a
4	TBL1XR1	chr14:24559784-24560116	K562	blood:	n/a	n/a
5	CTCF	chr14:24559739-24560063	GM13977	blood:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
6	BCLAF1	chr14:24559623-24560132	GM12878	blood:	n/a	n/a
7	RAD21	chr14:24559463-24560189	HepG2	liver:	n/a	chr14:24559904-24559923 chr14:24559907-24559920 chr14:24559906-24559918 chr14:24559937-24559951 chr14:24559908-24559918
8	IRF4	chr14:24559691-24560114	GM12878	blood:	n/a	n/a
9	RAD21	chr14:24559639-24560155	MCF-7	breast:	n/a	chr14:24559904-24559923 chr14:24559907-24559920 chr14:24559906-24559918 chr14:24559937-24559951 chr14:24559908-24559918
10	ARID3A	chr14:24559762-24560318	K562	blood:	n/a	n/a
11	RAD21	chr14:24559685-24560093	SK-N-SH_RA	brain:	n/a	chr14:24559904-24559923 chr14:24559907-24559920 chr14:24559906-24559918 chr14:24559937-24559951 chr14:24559908-24559918
12	ZNF143	chr14:24559747-24560085	GM12878	blood:	n/a	n/a
13	CTCF	chr14:24559776-24560066	MCF-7	breast:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
14	CTCF	chr14:24559502-24560254	HepG2	liver:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
15	CTCF	chr14:24559789-24560047	HepG2	liver:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
16	RAD21	chr14:24559523-24560264	HCT-116	colon:	n/a	chr14:24559904-24559923 chr14:24559907-24559920 chr14:24559906-24559918 chr14:24559937-24559951 chr14:24559908-24559918
17	CTCF	chr14:24559474-24560274	A549	lung:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
18	ZNF263	chr14:24559666-24560038	HEK293-T-REx	kidney:	n/a	n/a
19	RAD21	chr14:24559736-24560065	K562	blood:	n/a	chr14:24559904-24559923 chr14:24559907-24559920 chr14:24559906-24559918 chr14:24559937-24559951 chr14:24559908-24559918
20	CTCF	chr14:24559880-24560030	GM12865	blood:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
21	CTCF	chr14:24559775-24560049	HUVEC	blood vessel:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
22	CTCF	chr14:24559758-24560057	GM12892	blood:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
23	RAD21	chr14:24559691-24560134	IMR90	lung:	n/a	chr14:24559904-24559923 chr14:24559907-24559920 chr14:24559906-24559918 chr14:24559937-24559951 chr14:24559908-24559918
24	CTCF	chr14:24559788-24560059	GM19240	blood:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
25	MAX	chr14:24559856-24560131	K562	blood:	n/a	n/a
26	MYC	chr14:24559751-24560186	NB4	blood:	n/a	n/a
27	CTCF	chr14:24559366-24560288	SK-N-SH	brain:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
28	TEAD4	chr14:24559802-24560103	H1-hESC	embryonic stem cell:	n/a	n/a
29	EP300	chr14:24559762-24560115	GM12878	blood:	n/a	n/a
30	CTCF	chr14:24559761-24560065	Gliobla	brain:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
31	RCOR1	chr14:24559706-24560097	GM12878	blood:	n/a	n/a
32	RAD21	chr14:24559602-24560144	A549	lung:	n/a	chr14:24559904-24559923 chr14:24559907-24559920 chr14:24559906-24559918 chr14:24559937-24559951 chr14:24559908-24559918
33	CTCF	chr14:24559880-24560030	HFF-Myc	foreskin:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
34	CTCF	chr14:24559772-24560061	GM19239	blood:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
35	STAT5A	chr14:24559719-24560081	GM12878	blood:	n/a	n/a
36	SMC3	chr14:24559737-24560103	K562	blood:	n/a	chr14:24559914-24559922 chr14:24559908-24559918 chr14:24559908-24559922
37	CTCF	chr14:24559801-24560081	A549	lung:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
38	CTCF	chr14:24559778-24560061	K562	blood:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
39	CTCF	chr14:24559773-24560094	Spleen_OC	spleen:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
40	RAD21	chr14:24559614-24560121	SK-N-SH_RA	brain:	n/a	chr14:24559904-24559923 chr14:24559907-24559920 chr14:24559906-24559918 chr14:24559937-24559951 chr14:24559908-24559918
41	CTCF	chr14:24559783-24560043	SK-N-SH_RA	brain:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
42	ATF2	chr14:24559628-24560038	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr14:24559698-24560144	GM12878	blood:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
44	RCOR1	chr14:24559688-24560158	K562	blood:	n/a	n/a
45	SRF	chr14:24559785-24560038	HepG2	liver:	n/a	chr14:24559947-24559957
46	MYBL2	chr14:24559554-24560212	HepG2	liver:	n/a	n/a
47	CTCF	chr14:24559784-24560053	MCF-7	breast:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
48	CTCF	chr14:24559639-24560151	A549	lung:	n/a	chr14:24559937-24559950 chr14:24559912-24559921 chr14:24559909-24559919 chr14:24559906-24559924 chr14:24559907-24559923 chr14:24559901-24559922 chr14:24559908-24559921
49	RAD21	chr14:24559493-24560181	HepG2	liver:	n/a	chr14:24559904-24559923 chr14:24559907-24559920 chr14:24559906-24559918 chr14:24559937-24559951 chr14:24559908-24559918
50	SPI1	chr14:24559863-24560068	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24530314..24532732-chr14:24558824..24560499,2	MCF-7	breast:
2	chr14:24553933..24556292-chr14:24559960..24561703,2	K562	blood:
3	chr14:24527144..24528521-chr14:24559426..24560661,30	MCF-7	breast:
4	chr14:24538729..24541418-chr14:24557989..24560836,2	MCF-7	breast:
5	chr14:24528168..24530013-chr14:24559103..24561456,2	MCF-7	breast:
6	chr14:24555104..24560736-chr14:24562087..24567430,10	MCF-7	breast:
7	chr14:24545719..24548235-chr14:24559934..24562194,2	MCF-7	breast:
8	chr14:24558420..24561754-chr14:24562425..24566157,5	K562	blood:
9	chr14:24557331..24560354-chr14:24581689..24584302,3	MCF-7	breast:
10	chr14:24483165..24483827-chr14:24559565..24560642,4	MCF-7	breast:
11	chr14:24548337..24552694-chr14:24555718..24561079,7	MCF-7	breast:
12	chr14:24559495..24561596-chr14:24629782..24631905,2	K562	blood:
13	chr14:24527244..24528161-chr14:24559819..24560368,5	K562	blood:
14	chr14:24527208..24528646-chr14:24559174..24560390,16	MCF-7	breast:
15	chr14:24525567..24528121-chr14:24559666..24562696,4	MCF-7	breast:
16	chr14:24559892..24561596-chr14:24629476..24631905,2	K562	blood:
17	chr14:24482858..24483785-chr14:24559502..24560237,2	K562	blood:
18	chr14:24525209..24530218-chr14:24558349..24561579,6	MCF-7	breast:

Variant related genes	Relation type
PCK2	TF binding region
ENSG00000100889	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000100884	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000129535	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10132337	1.00[AMR][1000 genomes]
rs10134774	1.00[AMR][1000 genomes]
rs28602537	1.00[AMR][1000 genomes]
rs61737107	1.00[AMR][1000 genomes]
rs62621245	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv1049316	chr14:24405420-24583724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv541999	chr14:24405420-24583724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	nsv456168	chr14:24525634-24618859	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv564057	chr14:24525634-24618859	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24551000-24563400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:24551200-24562800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:24551200-24562800	Weak transcription	Spleen	Spleen
4	chr14:24551800-24561200	Weak transcription	Gastric	stomach
5	chr14:24552200-24562600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:24557600-24562800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:24557600-24562800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:24558800-24560600	Enhancers	HepG2	liver
9	chr14:24558800-24562800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:24559200-24560200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:24559200-24560200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:24559200-24560200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:24559200-24562600	Enhancers	Fetal Intestine Small	intestine
14	chr14:24559200-24562800	Enhancers	Liver	Liver
15	chr14:24559400-24560200	Enhancers	Fetal Thymus	thymus
16	chr14:24559600-24560200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:24559600-24560200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr14:24559600-24560200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr14:24559600-24560200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr14:24559600-24560200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr14:24559600-24560200	Enhancers	Primary B cells from peripheral blood	blood
22	chr14:24559600-24560200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr14:24559600-24560200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr14:24559600-24560200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr14:24559600-24560200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:24559600-24560200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr14:24559600-24560200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:24559600-24560200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:24559600-24560200	Enhancers	Dnd41	blood
30	chr14:24559600-24560200	Enhancers	GM12878-XiMat	blood
31	chr14:24559600-24560200	Enhancers	K562	blood
32	chr14:24559600-24562200	Enhancers	Duodenum Mucosa	Duodenum
33	chr14:24559600-24562800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr14:24559600-24563200	Enhancers	Fetal Intestine Large	intestine
35	chr14:24559800-24560200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:24559800-24560200	Enhancers	Brain Hippocampus Middle	brain
37	chr14:24559800-24560400	Enhancers	Primary B cells from cord blood	blood
38	chr14:24559800-24561200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:24559800-24561200	Weak transcription	Stomach Mucosa	stomach
40	chr14:24559800-24562200	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:24559800-24562400	Weak transcription	Brain Angular Gyrus	brain
42	chr14:24559800-24562400	Weak transcription	A549	lung
43	chr14:24559800-24562600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:24559800-24562800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr14:24559800-24562800	Weak transcription	Brain Anterior Caudate	brain
46	chr14:24559800-24563000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:24559800-24563000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr14:24560000-24560200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:24560000-24560200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr14:24560000-24560200	Enhancers	Hela-S3	cervix

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