Variant report

Variant	rs56333151
Chromosome Location	chr14:71789808-71789809
allele	A/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	CTCF	chr14:71789700-71789850	GM12868	blood:	n/a	n/a
2	RAD21	chr14:71789344-71789891	GM12878	blood:	n/a	chr14:71789547-71789566
3	TBP	chr14:71789399-71790253	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:71789334-71789915	GM12878	blood:	n/a	n/a
5	MXI1	chr14:71786032-71789994	SK-N-SH	brain:	n/a	chr14:71786940-71786955 chr14:71786938-71786953
6	STAT3	chr14:71789365-71789952	GM12878	blood:	n/a	n/a
7	TCF7L2	chr14:71789571-71789909	Hela-S3	cervix:	n/a	chr14:71789819-71789835 chr14:71789823-71789832
8	CTCF	chr14:71789806-71789839	GM10248	blood:	n/a	n/a
9	CTCF	chr14:71789366-71789978	K562	blood:	n/a	chr14:71789548-71789569
10	MAZ	chr14:71789390-71789847	GM12878	blood:	n/a	n/a
11	STAT1	chr14:71789536-71789921	GM12878	blood:	n/a	n/a
12	SMC3	chr14:71787824-71789963	GM12878	blood:	n/a	n/a
13	RAD21	chr14:71788646-71789853	HCT-116	colon:	n/a	chr14:71789547-71789566
14	POLR2A	chr14:71789338-71789923	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:71786672-71789921	IMR90	lung:	n/a	n/a
16	CTCF	chr14:71788914-71790060	SK-N-SH	brain:	n/a	chr14:71789548-71789569
17	RAD21	chr14:71786162-71790206	SK-N-SH	brain:	n/a	chr14:71789547-71789566 chr14:71787953-71787963 chr14:71787922-71787932 chr14:71787005-71787018 chr14:71787277-71787290 chr14:71787747-71787761
18	RCOR1	chr14:71789470-71790014	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:71789426-71789809	GM12891	blood:	n/a	n/a
20	RCOR1	chr14:71789413-71789830	K562	blood:	n/a	n/a
21	RAD21	chr14:71789324-71789815	MCF-7	breast:	n/a	chr14:71789547-71789566
22	RAD21	chr14:71789331-71789843	HepG2	liver:	n/a	chr14:71789547-71789566
23	POLR2A	chr14:71786513-71789859	MCF10A-Er-Src	breast:	n/a	n/a
24	SMC3	chr14:71789266-71790249	SK-N-SH	brain:	n/a	n/a
25	CTCF	chr14:71789351-71789833	MCF-7	breast:	n/a	chr14:71789548-71789569
26	RAD21	chr14:71789346-71789942	Hela-S3	cervix:	n/a	chr14:71789547-71789566
27	CTCF	chr14:71789335-71790002	GM12878	blood:	n/a	chr14:71789548-71789569
28	RAD21	chr14:71789291-71789847	SK-N-SH_RA	brain:	n/a	chr14:71789547-71789566
29	CTCF	chr14:71789802-71789843	GM12878	blood:	n/a	n/a
30	TBL1XR1	chr14:71789400-71789947	GM12878	blood:	n/a	n/a
31	RAD21	chr14:71789370-71789958	GM12878	blood:	n/a	chr14:71789547-71789566
32	SMC3	chr14:71786731-71789853	Hela-S3	cervix:	n/a	n/a
33	RFX5	chr14:71788311-71790000	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr14:71789342-71789861	IMR90	lung:	n/a	chr14:71789548-71789569
35	MXI1	chr14:71789383-71790144	GM12878	blood:	n/a	n/a
36	BCLAF1	chr14:71789308-71789995	GM12878	blood:	n/a	n/a
37	RAD21	chr14:71789207-71789900	MCF-7	breast:	n/a	chr14:71789547-71789566
38	RUNX3	chr14:71789308-71789971	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:71787272..71789927-chr14:72149469..72152199,2	MCF-7	breast:
2	chr14:71632877..71633633-chr14:71789090..71789926,3	MCF-7	breast:
3	chr14:71789768..71791635-chr14:71800055..71801739,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259146	TF binding region
ENSG00000197555	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10131152	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11623366	0.82[AMR][1000 genomes]
rs11624555	0.81[EUR][1000 genomes]
rs11626368	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11627196	0.85[EUR][1000 genomes]
rs17109223	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17109228	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs55881312	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56169848	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72726695	0.84[EUR][1000 genomes]
rs72728459	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72728502	0.82[EUR][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	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv1831401	chr14:71786411-71845264	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71786200-71790000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:71786400-71790000	Active TSS	Brain Hippocampus Middle	brain
3	chr14:71786400-71790000	Active TSS	HSMM	muscle
4	chr14:71786400-71790000	Active TSS	HSMMtube	muscle
5	chr14:71786400-71790200	Active TSS	Stomach Mucosa	stomach
6	chr14:71786600-71790000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:71786600-71790000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:71786800-71790000	Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr14:71786800-71790200	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr14:71787000-71791400	Active TSS	GM12878-XiMat	blood
11	chr14:71788200-71790000	Flanking Active TSS	Dnd41	blood
12	chr14:71788200-71790600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr14:71788200-71790600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr14:71788400-71790000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr14:71788400-71790600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr14:71788600-71790000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:71788600-71791600	Weak transcription	Small Intestine	intestine
18	chr14:71788600-71792800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr14:71788600-71794600	Weak transcription	Gastric	stomach
20	chr14:71788600-71811200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:71788600-71817000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:71788800-71791600	Weak transcription	Pancreas	Pancrea
23	chr14:71788800-71791600	Weak transcription	Spleen	Spleen
24	chr14:71788800-71793400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr14:71789000-71790000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:71789000-71790000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr14:71789000-71790000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:71789000-71790000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:71789000-71790000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:71789000-71790000	Active TSS	NHLF	lung
31	chr14:71789000-71790200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr14:71789000-71790200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr14:71789000-71790200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:71789000-71790200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr14:71789000-71790400	Flanking Active TSS	HMEC	breast
36	chr14:71789000-71790600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr14:71789000-71790600	Flanking Active TSS	Osteobl	bone
38	chr14:71789000-71791400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:71789000-71791400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:71789000-71791400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:71789000-71791400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:71789000-71791400	Weak transcription	Fetal Thymus	thymus
43	chr14:71789000-71791400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:71789000-71791600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr14:71789000-71791600	Weak transcription	Left Ventricle	heart
46	chr14:71789000-71791800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:71789000-71791800	Weak transcription	Colonic Mucosa	Colon
48	chr14:71789000-71792600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:71789000-71793400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:71789000-71793400	Enhancers	Primary T helper cells fromperipheralblood	blood

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