Variant report

Variant	rs1471152
Chromosome Location	chr16:81512636-81512637
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	TAF1	chr16:81512555-81512815	GM12891	blood:	n/a	n/a
2	RCOR1	chr16:81512482-81513122	GM12878	blood:	n/a	n/a
3	ZEB1	chr16:81512186-81512665	GM12878	blood:	n/a	n/a
4	PML	chr16:81512202-81513107	GM12878	blood:	n/a	n/a
5	MTA3	chr16:81512324-81513559	GM12878	blood:	n/a	n/a
6	CEBPB	chr16:81512604-81513192	MCF-7	breast:	n/a	chr16:81513023-81513034
7	RELA	chr16:81512502-81513220	GM18526	blood:	n/a	n/a
8	SPI1	chr16:81512356-81512890	GM12891	blood:	n/a	chr16:81512651-81512660
9	FOXM1	chr16:81512343-81513073	GM12878	blood:	n/a	n/a
10	BHLHE40	chr16:81512596-81512756	K562	blood:	n/a	n/a
11	MAZ	chr16:81512597-81512844	K562	blood:	n/a	n/a
12	ELF1	chr16:81512476-81512900	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:81512252-81512991	GM12892	blood:	n/a	n/a
14	SP1	chr16:81512417-81512986	GM12878	blood:	n/a	chr16:81512866-81512880 chr16:81512713-81512727 chr16:81512707-81512721 chr16:81512474-81512488 chr16:81512711-81512720
15	BHLHE40	chr16:81512462-81513130	GM12878	blood:	n/a	n/a
16	CUX1	chr16:81512507-81513167	GM12878	blood:	n/a	n/a
17	FOXA1	chr16:81512586-81512897	T-47D	breast:	n/a	n/a
18	TBP	chr16:81512492-81512921	GM12878	blood:	n/a	n/a
19	POLR2A	chr16:81512381-81512954	GM12891	blood:	n/a	n/a
20	POLR2A	chr16:81512422-81512897	PFSK-1	brain:	n/a	n/a
21	TCF3	chr16:81512433-81512773	GM12878	blood:	n/a	chr16:81512581-81512594 chr16:81512579-81512589
22	IKZF1	chr16:81512067-81513194	GM12878	blood:	n/a	n/a
23	PML	chr16:81512532-81512885	GM12878	blood:	n/a	n/a
24	POLR2A	chr16:81512297-81513232	GM12878	blood:	n/a	n/a
25	GATA3	chr16:81512561-81513009	T-47D	breast:	n/a	n/a
26	STAT5A	chr16:81512450-81512999	GM12878	blood:	n/a	chr16:81512651-81512662
27	SPI1	chr16:81512415-81512889	GM12891	blood:	n/a	chr16:81512651-81512660
28	YY1	chr16:81512432-81513203	GM12878	blood:	n/a	n/a
29	PAX5	chr16:81512509-81512898	GM12878	blood:	n/a	chr16:81512651-81512660
30	RELA	chr16:81512460-81513000	GM12892	blood:	n/a	n/a
31	WRNIP1	chr16:81512594-81513027	GM12878	blood:	n/a	n/a
32	POLR2A	chr16:81512399-81513027	GM12878	blood:	n/a	n/a
33	IRF4	chr16:81512321-81513007	GM12878	blood:	n/a	n/a
34	SMC3	chr16:81512462-81513187	GM12878	blood:	n/a	n/a
35	POLR2A	chr16:81512386-81512935	GM19193	blood:	n/a	n/a
36	RELA	chr16:81512454-81513163	GM19193	blood:	n/a	n/a
37	YY1	chr16:81512431-81512843	GM12892	blood:	n/a	n/a
38	EP300	chr16:81512478-81512873	GM12878	blood:	n/a	chr16:81512734-81512744
39	EGR1	chr16:81512543-81512844	GM12878	blood:	n/a	chr16:81512713-81512727
40	POLR2A	chr16:81510977-81518691	A549	lung:	n/a	n/a
41	CTCF	chr16:81512539-81512642	GM12878	blood:	n/a	n/a
42	RUNX3	chr16:81512241-81513063	GM12878	blood:	n/a	n/a
43	RELA	chr16:81512401-81513238	GM18951	blood:	n/a	n/a
44	CEBPB	chr16:81512386-81513356	GM12878	blood:	n/a	chr16:81513023-81513034
45	MYC	chr16:81512549-81513028	NB4	blood:	n/a	chr16:81512770-81512780
46	NFATC1	chr16:81512438-81513014	GM12878	blood:	n/a	n/a
47	YY1	chr16:81512487-81512909	GM12891	blood:	n/a	n/a
48	POLR2A	chr16:81512411-81512667	GM12878	blood:	n/a	n/a
49	TAF1	chr16:81512500-81512807	GM12878	blood:	n/a	n/a
50	NFIC	chr16:81512090-81513218	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81512213..81514076-chr16:81604304..81607138,2	MCF-7	breast:
2	chr16:81477417..81480247-chr16:81511265..81517424,6	MCF-7	breast:
3	chr16:81512177..81513721-chr16:81563313..81565727,2	K562	blood:
4	chr16:81480566..81483421-chr16:81511394..81514320,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260229	TF binding region
ENSG00000153815	Chromatin interaction

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

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

rs_ID	r²[population]
rs1471378	1.00[ASN][1000 genomes]
rs1471379	0.88[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1966957	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2125202	0.91[CHD][hapmap]
rs2926000	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2927324	0.93[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];1.00[ASN][1000 genomes]
rs2927325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2927327	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2966079	0.93[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.98[ASN][1000 genomes]
rs2966080	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2966082	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2966083	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv573359	chr16:81509279-81525637	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv521875	chr16:81510742-81514750	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
2	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:81496800-81514400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr16:81497600-81514600	Weak transcription	HSMM	muscle
5	chr16:81501800-81514400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:81501800-81515200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:81503000-81516600	Weak transcription	Brain Germinal Matrix	brain
8	chr16:81504000-81517800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr16:81504200-81513400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr16:81504200-81518200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:81504400-81514600	Strong transcription	NHEK	skin
12	chr16:81505200-81525600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr16:81505400-81521800	Weak transcription	Fetal Kidney	kidney
14	chr16:81505600-81512800	Strong transcription	Dnd41	blood
15	chr16:81505800-81514200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:81505800-81515000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:81505800-81523600	Weak transcription	Fetal Brain Male	brain
18	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:81506600-81547000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr16:81506800-81513600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr16:81506800-81517600	Weak transcription	HMEC	breast
22	chr16:81507000-81514800	Weak transcription	Brain Angular Gyrus	brain
23	chr16:81507400-81514400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr16:81507600-81516400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr16:81507600-81518400	Enhancers	Spleen	Spleen
26	chr16:81507800-81516400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr16:81507800-81519400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr16:81508000-81514400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:81508000-81514400	Weak transcription	NHLF	lung
30	chr16:81508000-81514600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:81508000-81516400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr16:81508000-81518000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:81508200-81514200	Weak transcription	Brain Substantia Nigra	brain
34	chr16:81508200-81514800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:81508600-81519400	Weak transcription	Ovary	ovary
36	chr16:81508800-81512800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:81509400-81513600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:81509400-81518000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr16:81509800-81514000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr16:81509800-81517600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr16:81509800-81518600	Enhancers	Lung	lung
42	chr16:81510000-81513600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr16:81510000-81516000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr16:81510000-81517200	Enhancers	Small Intestine	intestine
45	chr16:81510000-81518400	Enhancers	Placenta	Placenta
46	chr16:81510000-81518800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr16:81510200-81513600	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr16:81510200-81513600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr16:81510200-81516000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:81510200-81517000	Enhancers	Primary T helper cells fromperipheralblood	blood

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