Variant report

Variant	rs56392804
Chromosome Location	chr14:69263614-69263615
allele	G/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	EP300	chr14:69262333-69264410	K562	blood:	n/a	n/a
2	NFIC	chr14:69258747-69263739	GM12878	blood:	n/a	n/a
3	GATA1	chr14:69262430-69264491	PBDE	blood:	n/a	chr14:69263876-69263883 chr14:69263876-69263883 chr14:69263876-69263883 chr14:69263767-69263776 chr14:69263869-69263890
4	POLR2A	chr14:69257221-69263637	MCF10A-Er-Src	breast:	n/a	n/a
5	MTA3	chr14:69254975-69264454	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:69256736-69263833	Raji	blood:	n/a	n/a
7	CHD2	chr14:69258414-69263620	Hela-S3	cervix:	n/a	chr14:69258897-69258907 chr14:69261411-69261421 chr14:69259834-69259844 chr14:69261032-69261042 chr14:69259118-69259128
8	FOS	chr14:69263400-69263677	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr14:69263460-69263715	MCF10A-Er-Src	breast:	n/a	n/a
10	CEBPB	chr14:69262397-69263657	Hela-S3	cervix:	n/a	chr14:69263347-69263358
11	IRF1	chr14:69262403-69263756	K562	blood:	n/a	n/a
12	MYC	chr14:69262281-69263620	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr14:69263605-69264349	K562	blood:	n/a	n/a
14	POLR2A	chr14:69257288-69264495	PBDE	blood:	n/a	n/a
15	FOS	chr14:69263486-69263654	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr14:69263500-69263679	MCF10A-Er-Src	breast:	n/a	n/a
17	MAZ	chr14:69254887-69263779	IMR90	lung:	n/a	chr14:69258371-69258381 chr14:69257584-69257594
18	CEBPB	chr14:69262658-69263677	H1-hESC	embryonic stem cell:	n/a	chr14:69263347-69263358
19	CTCF	chr14:69262061-69264029	A549	lung:	n/a	n/a
20	SP1	chr14:69259371-69263668	HCT-116	colon:	n/a	chr14:69259973-69259982 chr14:69259969-69259983 chr14:69259930-69259944 chr14:69259831-69259845 chr14:69261409-69261421 chr14:69259583-69259592 chr14:69261411-69261420 chr14:69259582-69259591 chr14:69260859-69260873 chr14:69259834-69259848 chr14:69259937-69259951 chr14:69259581-69259593 chr14:69261168-69261180 chr14:69259581-69259593 chr14:69259926-69259935 chr14:69261409-69261421 chr14:69259972-69259984
21	POLR2A	chr14:69251917-69264005	GM12878	blood:	n/a	n/a
22	MYC	chr14:69263510-69263620	MCF10A-Er-Src	breast:	n/a	n/a
23	CREB1	chr14:69255257-69263615	GM12878	blood:	n/a	chr14:69260175-69260188
24	JUND	chr14:69262200-69263650	H1-hESC	embryonic stem cell:	n/a	n/a
25	SP1	chr14:69262700-69264485	H1-hESC	embryonic stem cell:	n/a	chr14:69263668-69263682
26	ZMIZ1	chr14:69263445-69264435	K562	blood:	n/a	n/a
27	RUNX3	chr14:69258444-69263720	GM12878	blood:	n/a	n/a
28	JUN	chr14:69262181-69264453	K562	blood:	n/a	n/a
29	POLR2A	chr14:69254876-69264506	H1-hESC	embryonic stem cell:	n/a	n/a
30	SIN3A	chr14:69257301-69264370	H1-hESC	embryonic stem cell:	n/a	chr14:69260510-69260521
31	POLR2A	chr14:69252398-69264017	GM12878	blood:	n/a	n/a
32	NR2F2	chr14:69263531-69264434	K562	blood:	n/a	n/a
33	BACH1	chr14:69263558-69264069	K562	blood:	n/a	n/a
34	POLR2A	chr14:69252090-69264348	GM12891	blood:	n/a	n/a
35	MTA3	chr14:69262164-69263832	GM12878	blood:	n/a	n/a
36	TBL1XR1	chr14:69262381-69264542	K562	blood:	n/a	n/a
37	CUX1	chr14:69263070-69264003	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69090615..69103406-chr14:69249821..69264188,29	MCF-7	breast:
2	chr14:68140439..68142137-chr14:69262660..69264249,2	MCF-7	breast:
3	chr14:69262582..69264227-chr20:45984862..45986463,2	MCF-7	breast:
4	chr14:68930492..68947840-chr14:69251918..69264148,62	MCF-7	breast:
5	chr14:69091753..69104091-chr14:69256141..69263760,20	MCF-7	breast:
6	chr14:69258720..69263996-chr17:57918463..57922385,5	MCF-7	breast:

Variant related genes	Relation type
ZFP36L1	TF binding region
ENSG00000100568	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000259038	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55958232	1.00[AFR][1000 genomes]
rs74060163	0.97[AFR][1000 genomes]
rs74060165	0.97[AFR][1000 genomes]
rs74060166	1.00[AFR][1000 genomes]
rs74060175	1.00[AFR][1000 genomes]
rs74060177	1.00[AFR][1000 genomes]
rs74060183	1.00[AFR][1000 genomes]
rs74060186	0.97[AFR][1000 genomes]
rs74060197	0.80[AFR][1000 genomes]

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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69257200-69263800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr14:69262600-69263800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:69262600-69264200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:69262800-69263800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:69263000-69263800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr14:69263000-69263800	Flanking Active TSS	Hela-S3	cervix
7	chr14:69263000-69263800	Flanking Active TSS	NHEK	skin
8	chr14:69263000-69264000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:69263000-69264200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr14:69263000-69264400	Flanking Active TSS	K562	blood
11	chr14:69263200-69263800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr14:69263200-69263800	Enhancers	Pancreas	Pancrea
13	chr14:69263200-69263800	Enhancers	Spleen	Spleen
14	chr14:69263200-69263800	Flanking Active TSS	HepG2	liver
15	chr14:69263200-69263800	Enhancers	HSMMtube	muscle
16	chr14:69263200-69264000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr14:69263200-69264000	Weak transcription	Esophagus	oesophagus
18	chr14:69263200-69264200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:69263200-69264200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr14:69263200-69264200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:69263200-69264200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr14:69263200-69264400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:69263200-69264400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:69263200-69264400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:69263200-69264400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:69263200-69264400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr14:69263200-69265000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:69263200-69265000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:69263200-69273000	Weak transcription	Ovary	ovary
30	chr14:69263200-69273200	Weak transcription	HSMM	muscle
31	chr14:69263400-69263800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr14:69263400-69263800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:69263400-69263800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:69263400-69263800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr14:69263400-69263800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:69263400-69263800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
37	chr14:69263400-69263800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr14:69263400-69263800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:69263400-69263800	Enhancers	Colon Smooth Muscle	Colon
40	chr14:69263400-69263800	Enhancers	Fetal Stomach	stomach
41	chr14:69263400-69263800	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr14:69263400-69264000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr14:69263400-69264000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr14:69263400-69264000	Enhancers	Fetal Intestine Small	intestine
45	chr14:69263400-69264000	Enhancers	Fetal Thymus	thymus
46	chr14:69263400-69264200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr14:69263400-69264200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr14:69263400-69264200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr14:69263400-69264200	Enhancers	Primary hematopoietic stem cells	blood
50	chr14:69263400-69264200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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