Variant report

Variant	rs7149020
Chromosome Location	chr14:32669994-32669995
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	NFIC	chr14:32669857-32673593	HepG2	liver:	n/a	chr14:32670734-32670751
2	MAX	chr14:32669830-32671113	GM12878	blood:	n/a	n/a
3	BHLHE40	chr14:32669994-32671863	HepG2	liver:	n/a	n/a
4	BHLHE40	chr14:32669588-32670359	GM12878	blood:	n/a	n/a
5	ZNF143	chr14:32669700-32671377	GM12878	blood:	n/a	chr14:32671007-32671022 chr14:32671004-32671023
6	ZEB1	chr14:32669719-32673848	HepG2	liver:	n/a	n/a
7	IKZF1	chr14:32669575-32670421	GM12878	blood:	n/a	n/a
8	NFIC	chr14:32669547-32670084	GM12878	blood:	n/a	n/a
9	MAX	chr14:32669799-32673731	HepG2	liver:	n/a	chr14:32672740-32672750
10	CREB1	chr14:32669939-32673704	HepG2	liver:	n/a	n/a
11	HEY1	chr14:32669934-32671610	HepG2	liver:	n/a	n/a
12	MXI1	chr14:32669911-32671203	Hela-S3	cervix:	n/a	n/a
13	SPI1	chr14:32669643-32670058	HL-60	blood:	n/a	chr14:32669825-32669838
14	HEY1	chr14:32669955-32671487	HepG2	liver:	n/a	n/a
15	EP300	chr14:32669593-32670027	GM12878	blood:	n/a	chr14:32669822-32669836 chr14:32669828-32669842
16	SPI1	chr14:32669581-32670052	GM12891	blood:	n/a	chr14:32669825-32669838
17	IRF4	chr14:32669604-32670045	GM12878	blood:	n/a	n/a
18	SPI1	chr14:32669586-32670044	GM12891	blood:	n/a	chr14:32669825-32669838
19	ZEB1	chr14:32669972-32673676	HepG2	liver:	n/a	n/a
20	FOXA2	chr14:32669929-32671226	HepG2	liver:	n/a	n/a
21	MEF2A	chr14:32669669-32670001	GM12878	blood:	n/a	n/a
22	MYBL2	chr14:32669879-32673629	HepG2	liver:	n/a	n/a
23	SREBP2	chr14:32669379-32674149	GM12878	blood:	n/a	n/a
24	CUX1	chr14:32669557-32670402	GM12878	blood:	n/a	n/a
25	TBP	chr14:32669731-32670617	GM12878	blood:	n/a	n/a
26	CHD2	chr14:32669633-32670995	GM12878	blood:	n/a	n/a
27	MYC	chr14:32669956-32670118	MCF10A-Er-Src	breast:	n/a	n/a
28	BCLAF1	chr14:32669546-32670099	GM12878	blood:	n/a	n/a
29	MBD4	chr14:32669896-32673886	HepG2	liver:	n/a	n/a
30	MAZ	chr14:32669713-32670903	GM12878	blood:	n/a	n/a
31	MBD4	chr14:32669890-32673606	HepG2	liver:	n/a	n/a
32	EBF1	chr14:32669658-32670424	GM12878	blood:	n/a	n/a
33	SPI1	chr14:32669676-32670017	GM12878	blood:	n/a	chr14:32669825-32669838
34	MXI1	chr14:32669629-32673720	SK-N-SH	brain:	n/a	n/a
35	MYBL2	chr14:32669934-32673803	HepG2	liver:	n/a	n/a
36	RUNX3	chr14:32669535-32670136	GM12878	blood:	n/a	n/a
37	SPI1	chr14:32669301-32670327	GM12878	blood:	n/a	chr14:32669825-32669838
38	RUNX3	chr14:32669596-32670006	GM12878	blood:	n/a	n/a
39	EP300	chr14:32669578-32670795	GM12878	blood:	n/a	chr14:32669822-32669836 chr14:32669828-32669842
40	MEF2C	chr14:32669587-32670068	GM12878	blood:	n/a	chr14:32669834-32669849
41	POLR2A	chr14:32669900-32673426	Hela-S3	cervix:	n/a	n/a
42	MAX	chr14:32669914-32673720	HepG2	liver:	n/a	chr14:32672740-32672750
43	NFIC	chr14:32669538-32670088	GM12878	blood:	n/a	n/a
44	POLR2A	chr14:32669952-32671397	HepG2	liver:	n/a	n/a
45	MEF2A	chr14:32669501-32670091	GM12878	blood:	n/a	n/a
46	MAX	chr14:32669930-32673856	A549	lung:	n/a	chr14:32672740-32672750
47	TEAD4	chr14:32669830-32673372	HepG2	liver:	n/a	n/a
48	EP300	chr14:32669630-32670433	GM12878	blood:	n/a	chr14:32669822-32669836 chr14:32669828-32669842
49	MXI1	chr14:32669569-32671039	GM12878	blood:	n/a	n/a
50	SPI1	chr14:32669651-32670050	HL-60	blood:	n/a	chr14:32669825-32669838

No.	Distal block	Cell Line	Cell type
1	chr14:32544618..32548147-chr14:32668083..32673759,9	K562	blood:
2	chr14:32665295..32667033-chr14:32668377..32670750,3	K562	blood:
3	chr14:32544948..32548496-chr14:32669195..32673537,9	MCF-7	breast:
4	chr14:32544500..32547770-chr14:32669959..32673759,8	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf126-5	chr14:32669704-32670732	XLOC_010989

Variant related genes	Relation type
RNU6-7	TF binding region
ENSG00000258655	Chromatin interaction
ENSG00000100852	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11622364	0.94[CHB][hapmap];0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11628544	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12590282	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12590692	0.90[CHB][hapmap];0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17098557	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1887936	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1965599	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34579438	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58425212	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59484466	0.86[AMR][1000 genomes]
rs61201256	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61994817	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs61994818	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7158235	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832764	chr14:32564468-32723213	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3380705	chr14:32668101-32670199	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3527777	chr14:32669175-32761850	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3527778	chr14:32669175-32761850	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32667600-32670000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:32667600-32670000	Weak transcription	NHEK	skin
3	chr14:32669200-32670000	Enhancers	Adipose Nuclei	Adipose
4	chr14:32669200-32672400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:32669400-32670000	Flanking Active TSS	GM12878-XiMat	blood
6	chr14:32669400-32671600	Active TSS	A549	lung
7	chr14:32669400-32672400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr14:32669400-32673600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr14:32669600-32670000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:32669600-32670000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr14:32669600-32670200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr14:32669600-32672400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:32669600-32673600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr14:32669600-32674000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr14:32669800-32670000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr14:32669800-32670000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:32669800-32670000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
18	chr14:32669800-32670000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr14:32669800-32670000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr14:32669800-32670000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:32669800-32670000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr14:32669800-32670000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:32669800-32670000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:32669800-32670000	Flanking Active TSS	Liver	Liver
25	chr14:32669800-32670000	Enhancers	Fetal Intestine Small	intestine
26	chr14:32669800-32670000	Active TSS	Fetal Lung	lung
27	chr14:32669800-32670000	Enhancers	Placenta	Placenta
28	chr14:32669800-32670000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr14:32669800-32670000	Enhancers	Rectal Smooth Muscle	rectum
30	chr14:32669800-32670000	Bivalent Enhancer	Dnd41	blood
31	chr14:32669800-32670000	Flanking Bivalent TSS/Enh	HepG2	liver
32	chr14:32669800-32670000	Enhancers	HMEC	breast
33	chr14:32669800-32670200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr14:32669800-32670200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:32669800-32670200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr14:32669800-32670200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr14:32669800-32670400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:32669800-32670400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr14:32669800-32670600	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr14:32669800-32670600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr14:32669800-32670800	Active TSS	Primary B cells from peripheral blood	blood
42	chr14:32669800-32671000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr14:32669800-32671200	Active TSS	Duodenum Mucosa	Duodenum
44	chr14:32669800-32671200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr14:32669800-32671400	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr14:32669800-32671400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr14:32669800-32671400	Active TSS	Hela-S3	cervix
48	chr14:32669800-32671400	Active TSS	K562	blood
49	chr14:32669800-32671600	Active TSS	Fetal Intestine Large	intestine
50	chr14:32669800-32671600	Active TSS	Fetal Thymus	thymus

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