Variant report

Variant	rs17109037
Chromosome Location	chr14:39702329-39702330
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	SP1	chr14:39701947-39702772	HepG2	liver:	n/a	n/a
2	REST	chr14:39701969-39702415	HL-60	blood:	n/a	n/a
3	HNF4G	chr14:39701910-39702631	HepG2	liver:	n/a	n/a
4	MAX	chr14:39701976-39702539	NB4	blood:	n/a	n/a
5	FOXA1	chr14:39702017-39703452	HepG2	liver:	n/a	n/a
6	ZNF143	chr14:39702307-39702379	GM12878	blood:	n/a	n/a
7	CTCF	chr14:39702300-39702450	HCPEpiC	choroid plexus:	n/a	n/a
8	CEBPB	chr14:39701969-39702428	HepG2	liver:	n/a	n/a
9	CTCF	chr14:39702220-39702370	GM12801	blood:	n/a	n/a
10	CEBPB	chr14:39701991-39702375	HepG2	liver:	n/a	n/a
11	CTCF	chr14:39702320-39702470	HMEC	breast:	n/a	chr14:39702448-39702456
12	CTCF	chr14:39702319-39702383	GM13977	blood:	n/a	n/a
13	MYC	chr14:39702011-39702373	NB4	blood:	n/a	n/a
14	CTCF	chr14:39702260-39702510	HRE	kidney:	n/a	chr14:39702448-39702456
15	CTCF	chr14:39702200-39702350	HCFaa	heart:	n/a	n/a
16	MBD4	chr14:39701854-39703465	HepG2	liver:	n/a	n/a
17	MAZ	chr14:39701891-39702439	IMR90	lung:	n/a	n/a
18	CTCF	chr14:39702240-39702390	GM06990	blood:	n/a	n/a
19	MAZ	chr14:39702119-39702611	HepG2	liver:	n/a	n/a
20	MYBL2	chr14:39701844-39703767	HepG2	liver:	n/a	n/a
21	CTCF	chr14:39702320-39702470	HMF	breast:	n/a	chr14:39702448-39702456
22	HDAC2	chr14:39701874-39702560	HepG2	liver:	n/a	chr14:39702308-39702322 chr14:39702307-39702321
23	CTCF	chr14:39702300-39702450	HMEC	breast:	n/a	n/a
24	POLR2A	chr14:39702007-39702407	HL-60	blood:	n/a	n/a
25	MAX	chr14:39701875-39703653	HepG2	liver:	n/a	n/a
26	CTCF	chr14:39702216-39702435	K562	blood:	n/a	n/a
27	RAD21	chr14:39701941-39702696	HepG2	liver:	n/a	n/a
28	CTCF	chr14:39702320-39702470	HPAF	blood vessel:	n/a	chr14:39702448-39702456
29	SIN3AK20	chr14:39701942-39702480	HepG2	liver:	n/a	n/a
30	CEBPB	chr14:39701995-39702379	IMR90	lung:	n/a	n/a
31	CTCF	chr14:39702300-39702450	AG10803	skin:	n/a	n/a
32	CTCF	chr14:39702280-39702430	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr14:39702300-39702450	GM12871	blood:	n/a	n/a
34	MYC	chr14:39702060-39702365	MCF10A-Er-Src	breast:	n/a	n/a
35	ARID3A	chr14:39701927-39703977	HepG2	liver:	n/a	n/a
36	MYBL2	chr14:39701809-39703652	HepG2	liver:	n/a	n/a
37	CTCF	chr14:39702202-39702512	GM12878	blood:	n/a	chr14:39702448-39702456
38	EP300	chr14:39701967-39702615	HepG2	liver:	n/a	chr14:39702308-39702322
39	CEBPB	chr14:39702013-39702366	HepG2	liver:	n/a	n/a
40	CTCF	chr14:39702260-39702410	HPAF	blood vessel:	n/a	n/a
41	RAD21	chr14:39702268-39702432	GM12878	blood:	n/a	n/a
42	EP300	chr14:39701966-39702491	HepG2	liver:	n/a	chr14:39702308-39702322
43	TEAD4	chr14:39701793-39703698	HepG2	liver:	n/a	n/a
44	FOS	chr14:39702081-39702360	MCF10A-Er-Src	breast:	n/a	n/a
45	MXI1	chr14:39702024-39702537	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39571162..39573957-chr14:39700069..39703541,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258941	TF binding region
MIA2	TF binding region
ENSG00000258651	Chromatin interaction
ENSG00000100934	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17108840	1.00[MEX][hapmap]
rs17108884	1.00[MEX][hapmap]
rs17108885	1.00[MEX][hapmap]
rs17108962	1.00[MEX][hapmap]
rs17108984	1.00[MEX][hapmap]
rs17109079	1.00[MEX][hapmap]
rs17109123	1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs17109135	1.00[AMR][1000 genomes]
rs17109146	1.00[AMR][1000 genomes]
rs17109165	1.00[AMR][1000 genomes]
rs17109170	1.00[AMR][1000 genomes]
rs17109216	1.00[AMR][1000 genomes]
rs17109235	1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs2196170	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2415530	1.00[MEX][hapmap]
rs57704406	1.00[AMR][1000 genomes]
rs59310392	1.00[AMR][1000 genomes]
rs6571903	1.00[MEX][hapmap]
rs7144933	1.00[MEX][hapmap]
rs7150364	1.00[MEX][hapmap]
rs7153086	1.00[JPT][hapmap]
rs7153292	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8014741	1.00[MEX][hapmap]
rs8014887	1.00[MEX][hapmap]
rs8016370	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv84871	chr14:39698400-39707997	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39674000-39705400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:39696800-39702400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr14:39697000-39702600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:39699200-39702400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr14:39699200-39702400	Weak transcription	NHEK	skin
6	chr14:39699400-39702400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:39699400-39703200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr14:39699800-39702400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:39699800-39702400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:39700600-39702800	Enhancers	Liver	Liver
11	chr14:39700600-39702800	Enhancers	Fetal Intestine Small	intestine
12	chr14:39701000-39702600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr14:39701000-39703000	Enhancers	Fetal Intestine Large	intestine
14	chr14:39701200-39702400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr14:39702000-39702600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:39702000-39702600	Enhancers	Aorta	Aorta
17	chr14:39702000-39702600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr14:39702000-39702800	Enhancers	GM12878-XiMat	blood
19	chr14:39702000-39703200	Enhancers	Stomach Mucosa	stomach
20	chr14:39702000-39703400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr14:39702000-39703400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr14:39702000-39703600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr14:39702000-39703600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:39702000-39704000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:39702200-39702400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr14:39702200-39702400	Bivalent/Poised TSS	HepG2	liver
27	chr14:39702200-39702600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:39702200-39702600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:39702200-39702600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:39702200-39702600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr14:39702200-39702600	Enhancers	NH-A	brain
32	chr14:39702200-39702600	Flanking Active TSS	Osteobl	bone
33	chr14:39702200-39702800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:39702200-39702800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr14:39702200-39702800	Enhancers	NHDF-Ad	bronchial
36	chr14:39702200-39702800	Enhancers	NHLF	lung
37	chr14:39702200-39703000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr14:39702200-39703200	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr14:39702200-39703400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:39702200-39703400	Enhancers	HSMMtube	muscle
41	chr14:39702200-39703600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:39702200-39703600	Flanking Active TSS	A549	lung

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