Variant report

Variant	rs3181254
Chromosome Location	chr14:24801325-24801326
allele	C/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	CHD1	chr14:24801281-24801944	IMR90	lung:	n/a	chr14:24801893-24801903
2	MBD4	chr14:24801137-24802106	HepG2	liver:	n/a	n/a
3	MXI1	chr14:24801285-24802100	SK-N-SH	brain:	n/a	n/a
4	MYBL2	chr14:24800874-24802346	HepG2	liver:	n/a	n/a
5	RAD21	chr14:24801278-24801783	A549	lung:	n/a	chr14:24801678-24801690
6	CTCF	chr14:24801246-24801896	K562	blood:	n/a	chr14:24801538-24801556 chr14:24801318-24801331
7	IRF4	chr14:24801269-24801752	GM12878	blood:	n/a	n/a
8	RCOR1	chr14:24801014-24802039	IMR90	lung:	n/a	n/a
9	NFIC	chr14:24801179-24801870	HepG2	liver:	n/a	n/a
10	CTCF	chr14:24801270-24801756	A549	lung:	n/a	chr14:24801538-24801556 chr14:24801318-24801331
11	POLR2A	chr14:24800848-24802400	HUVEC	blood vessel:	n/a	n/a
12	SIN3A	chr14:24801244-24802326	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr14:24801212-24801666	H1-hESC	embryonic stem cell:	n/a	chr14:24801538-24801556 chr14:24801318-24801331
14	CTCF	chr14:24801312-24801748	K562	blood:	n/a	chr14:24801538-24801556 chr14:24801318-24801331
15	POU2F2	chr14:24801251-24801765	GM12878	blood:	n/a	n/a
16	CTCF	chr14:24800894-24801813	HepG2	liver:	n/a	chr14:24801538-24801556 chr14:24801318-24801331
17	CTCF	chr14:24801234-24801354	MCF-7	breast:	n/a	chr14:24801318-24801331
18	ZNF263	chr14:24800274-24801733	HEK293-T-REx	kidney:	n/a	n/a
19	MAX	chr14:24800815-24802487	HepG2	liver:	n/a	chr14:24801678-24801685 chr14:24801677-24801686 chr14:24801676-24801687 chr14:24801677-24801687 chr14:24801676-24801687 chr14:24801676-24801686 chr14:24801677-24801686 chr14:24801675-24801688 chr14:24801166-24801176
20	CTCF	chr14:24800886-24801406	H1-hESC	embryonic stem cell:	n/a	chr14:24801318-24801331
21	CTCF	chr14:24801218-24801359	MCF-7	breast:	n/a	chr14:24801318-24801331
22	CTCF	chr14:24800979-24801856	MCF-7	breast:	n/a	chr14:24801538-24801556 chr14:24801318-24801331
23	MYC	chr14:24801259-24801947	H1-hESC	embryonic stem cell:	n/a	chr14:24801678-24801685 chr14:24801677-24801686 chr14:24801676-24801687 chr14:24801677-24801687 chr14:24801676-24801687 chr14:24801676-24801686 chr14:24801677-24801686 chr14:24801675-24801688
24	EBF1	chr14:24801158-24801732	GM12878	blood:	n/a	chr14:24801291-24801301 chr14:24801289-24801302 chr14:24801291-24801300 chr14:24801497-24801506
25	ELF1	chr14:24800927-24801917	GM12878	blood:	n/a	n/a
26	ZNF143	chr14:24801226-24801848	H1-hESC	embryonic stem cell:	n/a	n/a
27	MTA3	chr14:24801125-24801811	GM12878	blood:	n/a	n/a
28	CTCF	chr14:24801240-24801390	HEK293	kidney:	n/a	chr14:24801318-24801331
29	CTCF	chr14:24801236-24801325	GM19240	blood:	n/a	n/a
30	CEBPB	chr14:24801243-24801866	MCF-7	breast:	n/a	chr14:24801563-24801574 chr14:24801560-24801577
31	SMC3	chr14:24801033-24801881	SK-N-SH	brain:	n/a	n/a
32	ZNF384	chr14:24801282-24801721	K562	blood:	n/a	n/a
33	CEBPD	chr14:24801314-24801848	HepG2	liver:	n/a	chr14:24801564-24801575
34	MAX	chr14:24801312-24802077	A549	lung:	n/a	chr14:24801678-24801685 chr14:24801677-24801686 chr14:24801676-24801687 chr14:24801677-24801687 chr14:24801676-24801687 chr14:24801676-24801686 chr14:24801677-24801686 chr14:24801675-24801688
35	CTCF	chr14:24801288-24801360	H1-hESC	embryonic stem cell:	n/a	chr14:24801318-24801331
36	CTCF	chr14:24801200-24801350	HepG2	liver:	n/a	chr14:24801318-24801331
37	EBF1	chr14:24801140-24801751	GM12878	blood:	n/a	chr14:24801291-24801301 chr14:24801289-24801302 chr14:24801291-24801300 chr14:24801497-24801506
38	JUND	chr14:24801190-24802227	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr14:24801242-24801887	GM19238	blood:	n/a	chr14:24801538-24801556 chr14:24801318-24801331
40	CEBPB	chr14:24801311-24801798	HepG2	liver:	n/a	chr14:24801563-24801574 chr14:24801560-24801577
41	CTCF	chr14:24801117-24802171	SK-N-SH	brain:	n/a	chr14:24801538-24801556 chr14:24801318-24801331
42	BACH1	chr14:24801321-24801768	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr14:24801075-24801365	MCF-7	breast:	n/a	chr14:24801318-24801331
44	MTA3	chr14:24801303-24801763	GM12878	blood:	n/a	n/a
45	CTCF	chr14:24801074-24801820	HCT-116	colon:	n/a	chr14:24801538-24801556 chr14:24801318-24801331
46	POLR2A	chr14:24801274-24801368	GM12878	blood:	n/a	n/a
47	RAD21	chr14:24801215-24801827	HCT-116	colon:	n/a	chr14:24801678-24801690
48	POLR2A	chr14:24801313-24801636	HUVEC	blood vessel:	n/a	n/a
49	RAD21	chr14:24801257-24801821	H1-hESC	embryonic stem cell:	n/a	chr14:24801678-24801690
50	CTCF	chr14:24801243-24801769	GM12878	blood:	n/a	chr14:24801538-24801556 chr14:24801318-24801331

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24801301-24801351	MCF10A-Er-Src	breast:	n/a
2	chr14:24801301-24801351	AoSMC	blood vessel:	n/a
3	chr14:24801301-24801351	HMEC	breast:	n/a
4	chr14:24801301-24801351	GM12892	blood:	n/a
5	chr14:24801301-24801351	AG09319	gingival:	n/a
6	chr14:24801301-24801351	ECC-1	luminal epithelium:	n/a
7	chr14:24801301-24801351	NT2-D1	testis:	n/a
8	chr14:24801301-24801351	HCF	heart:	n/a
9	chr14:24801301-24801351	HCT-116	colon:	n/a
10	chr14:24801301-24801351	HRCEpiC	kidney:	n/a
11	chr14:24801301-24801351	SK-N-MC	brain:	n/a
12	chr14:24801301-24801351	NHBE	bronchial:	n/a
13	chr14:24801301-24801351	HCM	heart:	n/a
14	chr14:24801301-24801351	RPTEC	kidney:	n/a
15	chr14:24801301-24801351	HEK293	kidney:	embryo
16	chr14:24801301-24801351	PFSK-1	brain:	n/a
17	chr14:24801301-24801351	MCF-7	breast:	n/a
18	chr14:24801301-24801351	ovcar-3	ovarian:	n/a
19	chr14:24801301-24801351	U87	brain:	n/a
20	chr14:24801301-24801351	AG04450	lung:	fetal
21	chr14:24801301-24801351	GM12891	blood:	n/a
22	chr14:24801301-24801351	CMK	blood:	n/a
23	chr14:24801301-24801351	Hepatocyte	liver:	n/a
24	chr14:24801301-24801351	IMR90	lung:	fetal
25	chr14:24801301-24801351	HNPCEpiC	eye:	n/a
26	chr14:24801301-24801351	BJ	skin:	n/a
27	chr14:24801301-24801351	SKMC	muscle:	n/a
28	chr14:24801301-24801351	NHDF-neo	bronchial:	n/a
29	chr14:24801301-24801351	HUVEC	blood vessel:	n/a
30	chr14:24801301-24801351	LNCaP	prostate:	n/a
31	chr14:24801301-24801351	NH-A	brain:	n/a
32	chr14:24801301-24801351	HRPEpiC	eye:	n/a
33	chr14:24801301-24801351	HepG2	liver:	n/a
34	chr14:24801301-24801351	ProgFib	skin:	n/a
35	chr14:24801301-24801351	HEEpiC	esophagus:	n/a
36	chr14:24801301-24801351	T-47D	breast:	n/a
37	chr14:24801301-24801351	A549	lung:	n/a
38	chr14:24801301-24801351	HPAEpiC	pulmonary alveolar:	n/a
39	chr14:24801301-24801351	SK-N-SH	brain:	n/a
40	chr14:24801301-24801351	H1-hESC	embryonic stem cell:	embryo
41	chr14:24801301-24801351	BE2_C	brain:	n/a
42	chr14:24801301-24801351	HCPEpiC	choroid plexus:	n/a
43	chr14:24801301-24801351	HAEpiC	amniotic membrane:	n/a
44	chr14:24801301-24801351	Caco-2	colon:	n/a
45	chr14:24801301-24801351	GM12878	blood:	n/a
46	chr14:24801301-24801351	SK-N-SH_RA	brain:	n/a
47	chr14:24801301-24801351	HIPEpiC	eye:	n/a
48	chr14:24801301-24801351	AG10803	skin:	n/a
49	chr14:24801301-24801351	GM06990	blood:	n/a
50	chr14:24801301-24801351	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24799476..24801488-chr14:24903490..24905098,2	K562	blood:
2	chr14:24562501..24566419-chr14:24801112..24803821,3	MCF-7	breast:
3	chr14:24796879..24804920-chr14:24831628..24840088,12	MCF-7	breast:
4	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
5	chr14:24709884..24713728-chr14:24799730..24804763,6	MCF-7	breast:
6	chr14:24791358..24808812-chr14:24895309..24913599,55	K562	blood:
7	chr14:24684839..24685415-chr14:24801060..24801658,2	K562	blood:
8	chr14:24682382..24684800-chr14:24800505..24802328,2	K562	blood:
9	chr14:24768871..24772362-chr14:24798723..24803416,4	MCF-7	breast:
10	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
11	chr14:24801057..24801631-chr14:24900679..24901607,3	MCF-7	breast:
12	chr14:24801289..24801981-chr14:24899000..24899921,2	K562	blood:
13	chr14:24800598..24804207-chr14:24909756..24912911,5	K562	blood:
14	chr14:24800528..24803981-chr14:24898784..24901810,5	K562	blood:
15	chr14:24655775..24658265-chr14:24801236..24803229,2	MCF-7	breast:

Variant related genes	Relation type
ADCY4	TF binding region
ADCY4	CpG island
ENSG00000100441	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000196943	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17256902	0.91[JPT][hapmap]
rs3212244	0.82[CEU][hapmap]
rs3212249	0.82[CEU][hapmap]
rs3212250	0.82[CEU][hapmap]
rs3212251	0.82[CEU][hapmap]

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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24786200-24801600	Weak transcription	Left Ventricle	heart
2	chr14:24795600-24801600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:24796800-24801600	Weak transcription	Right Atrium	heart
4	chr14:24796800-24801600	Weak transcription	Osteobl	bone
5	chr14:24797000-24801400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr14:24797000-24801400	Weak transcription	HUVEC	blood vessel
7	chr14:24797800-24801600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:24799000-24801600	Weak transcription	Stomach Mucosa	stomach
9	chr14:24800200-24801600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr14:24800400-24801600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:24800400-24801600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:24800400-24801600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr14:24800400-24802200	Genic enhancers	Spleen	Spleen
14	chr14:24800600-24801600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr14:24800800-24801400	Enhancers	Primary B cells from cord blood	blood
16	chr14:24800800-24801400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr14:24800800-24801600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:24800800-24801600	Enhancers	Primary hematopoietic stem cells	blood
19	chr14:24800800-24801600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:24800800-24801600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:24800800-24803000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:24801000-24801400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:24801000-24801400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
24	chr14:24801000-24801400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:24801000-24801400	Enhancers	Brain Cingulate Gyrus	brain
26	chr14:24801000-24801400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr14:24801000-24801400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr14:24801000-24801600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr14:24801000-24801600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr14:24801000-24801600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:24801000-24801600	Enhancers	Liver	Liver
32	chr14:24801000-24801600	Active TSS	Brain Hippocampus Middle	brain
33	chr14:24801000-24801600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:24801000-24801600	Enhancers	Colonic Mucosa	Colon
35	chr14:24801000-24801600	Enhancers	Esophagus	oesophagus
36	chr14:24801000-24801600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr14:24801000-24801600	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr14:24801000-24801600	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr14:24801000-24801600	Enhancers	Placenta	Placenta
40	chr14:24801000-24801600	Bivalent Enhancer	Fetal Thymus	thymus
41	chr14:24801000-24801600	Enhancers	Gastric	stomach
42	chr14:24801000-24801600	Bivalent Enhancer	Thymus	Thymus
43	chr14:24801000-24801600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr14:24801000-24801800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:24801000-24801800	Enhancers	Dnd41	blood
46	chr14:24801000-24802200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr14:24801000-24802200	Bivalent Enhancer	Fetal Heart	heart
48	chr14:24801000-24802200	Enhancers	Ovary	ovary
49	chr14:24801000-24802400	Enhancers	Lung	lung
50	chr14:24801000-24802400	Enhancers	Pancreas	Pancrea

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