Variant report

Variant	rs12894960
Chromosome Location	chr14:39702013-39702014
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	ELF1	chr14:39701967-39702243	HepG2	liver:	n/a	n/a
6	RAD21	chr14:39701988-39702322	HepG2	liver:	n/a	n/a
7	HNF4A	chr14:39701952-39702290	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:39701969-39702428	HepG2	liver:	n/a	n/a
9	FOSL2	chr14:39701803-39702277	HepG2	liver:	n/a	n/a
10	CEBPB	chr14:39701991-39702375	HepG2	liver:	n/a	n/a
11	MYC	chr14:39702011-39702373	NB4	blood:	n/a	n/a
12	FOXA2	chr14:39701933-39702253	HepG2	liver:	n/a	n/a
13	MBD4	chr14:39701854-39703465	HepG2	liver:	n/a	n/a
14	MAZ	chr14:39701891-39702439	IMR90	lung:	n/a	n/a
15	MYBL2	chr14:39701844-39703767	HepG2	liver:	n/a	n/a
16	HDAC2	chr14:39701874-39702560	HepG2	liver:	n/a	chr14:39702308-39702322 chr14:39702307-39702321
17	POLR2A	chr14:39702007-39702407	HL-60	blood:	n/a	n/a
18	MAX	chr14:39701875-39703653	HepG2	liver:	n/a	n/a
19	JUND	chr14:39701944-39702228	HepG2	liver:	n/a	n/a
20	RAD21	chr14:39701941-39702696	HepG2	liver:	n/a	n/a
21	SIN3AK20	chr14:39701942-39702480	HepG2	liver:	n/a	n/a
22	CEBPB	chr14:39701995-39702379	IMR90	lung:	n/a	n/a
23	ARID3A	chr14:39701927-39703977	HepG2	liver:	n/a	n/a
24	MYBL2	chr14:39701809-39703652	HepG2	liver:	n/a	n/a
25	CEBPD	chr14:39701948-39702258	HepG2	liver:	n/a	n/a
26	EP300	chr14:39701967-39702615	HepG2	liver:	n/a	chr14:39702308-39702322
27	CEBPB	chr14:39702013-39702366	HepG2	liver:	n/a	n/a
28	EP300	chr14:39701966-39702491	HepG2	liver:	n/a	chr14:39702308-39702322
29	TEAD4	chr14:39701793-39703698	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
MIA2	TF binding region
ENSG00000258941	TF binding region
ENSG00000258651	Chromatin interaction
ENSG00000100934	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10131617	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10134143	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10134365	0.88[ASN][1000 genomes]
rs10151659	0.82[ASN][1000 genomes]
rs10162550	0.82[ASN][1000 genomes]
rs11621264	0.81[ASN][1000 genomes]
rs11621822	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11626150	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11627580	0.82[ASN][1000 genomes]
rs11628075	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11845046	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12587713	0.82[ASN][1000 genomes]
rs12589831	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12882709	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1594842	0.82[ASN][1000 genomes]
rs17109021	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17109028	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17109056	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17109073	0.82[ASN][1000 genomes]
rs1897792	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1998194	0.81[ASN][1000 genomes]
rs28626340	0.83[ASN][1000 genomes]
rs28680827	0.92[ASN][1000 genomes]
rs35184650	0.82[ASN][1000 genomes]
rs35201135	0.81[ASN][1000 genomes]
rs35613410	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35627131	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35691623	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7143646	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][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:36 , 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	chr14:39698800-39702200	Weak transcription	Osteobl	bone
5	chr14:39699000-39702200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:39699200-39702400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr14:39699200-39702400	Weak transcription	NHEK	skin
8	chr14:39699400-39702200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:39699400-39702200	Weak transcription	NH-A	brain
10	chr14:39699400-39702400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr14:39699400-39703200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr14:39699800-39702400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:39699800-39702400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:39700600-39702800	Enhancers	Liver	Liver
15	chr14:39700600-39702800	Enhancers	Fetal Intestine Small	intestine
16	chr14:39701000-39702200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:39701000-39702200	Weak transcription	HSMMtube	muscle
18	chr14:39701000-39702600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr14:39701000-39703000	Enhancers	Fetal Intestine Large	intestine
20	chr14:39701200-39702200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr14:39701200-39702200	Weak transcription	A549	lung
22	chr14:39701200-39702200	Active TSS	HepG2	liver
23	chr14:39701200-39702400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr14:39702000-39702200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:39702000-39702200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:39702000-39702200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:39702000-39702600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:39702000-39702600	Enhancers	Aorta	Aorta
29	chr14:39702000-39702600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr14:39702000-39702800	Enhancers	GM12878-XiMat	blood
31	chr14:39702000-39703200	Enhancers	Stomach Mucosa	stomach
32	chr14:39702000-39703400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr14:39702000-39703400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr14:39702000-39703600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr14:39702000-39703600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:39702000-39704000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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