Variant report

Variant	rs11856066
Chromosome Location	chr15:45027861-45027862
allele	A/C
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	RCOR1	chr15:45027744-45028113	K562	blood:	n/a	n/a
2	BATF	chr15:45027540-45028233	GM12878	blood:	n/a	n/a
3	ATF2	chr15:45027524-45028253	GM12878	blood:	n/a	n/a
4	SPI1	chr15:45027787-45028097	GM12878	blood:	n/a	n/a
5	RUNX3	chr15:45027534-45028666	GM12878	blood:	n/a	n/a
6	FOXM1	chr15:45027530-45028183	GM12878	blood:	n/a	n/a
7	EGR1	chr15:45027718-45028139	K562	blood:	n/a	chr15:45027979-45027992 chr15:45027978-45027993 chr15:45027980-45027994
8	CREB1	chr15:45027602-45028744	GM12878	blood:	n/a	n/a
9	MAZ	chr15:45027614-45028441	K562	blood:	n/a	n/a
10	CREB1	chr15:45027574-45028754	GM12878	blood:	n/a	n/a
11	CEBPB	chr15:45027574-45027894	IMR90	lung:	n/a	n/a
12	EGR1	chr15:45027660-45028141	K562	blood:	n/a	chr15:45027979-45027992 chr15:45027978-45027993 chr15:45027980-45027994
13	PML	chr15:45027607-45028309	GM12878	blood:	n/a	n/a
14	CEBPB	chr15:45027581-45027891	K562	blood:	n/a	n/a
15	ELK1	chr15:45027847-45028017	K562	blood:	n/a	n/a
16	TEAD4	chr15:45027615-45028298	K562	blood:	n/a	n/a
17	SPI1	chr15:45027789-45028162	GM12891	blood:	n/a	n/a
18	RUNX3	chr15:45027622-45028752	GM12878	blood:	n/a	n/a
19	IKZF1	chr15:45027490-45028886	GM12878	blood:	n/a	n/a
20	MAFF	chr15:45027690-45027912	K562	blood:	n/a	n/a
21	SPI1	chr15:45027727-45028293	GM12891	blood:	n/a	n/a
22	MYC	chr15:45027642-45028422	K562	blood:	n/a	n/a
23	ZNF384	chr15:45027757-45028162	K562	blood:	n/a	n/a
24	CCNT2	chr15:45027729-45028043	K562	blood:	n/a	n/a
25	SPI1	chr15:45027847-45028043	K562	blood:	n/a	n/a
26	CUX1	chr15:45027662-45028600	K562	blood:	n/a	n/a
27	EP300	chr15:45027616-45028774	GM12878	blood:	n/a	chr15:45028524-45028533 chr15:45028664-45028678
28	UBTF	chr15:45027847-45028254	K562	blood:	n/a	n/a
29	CEBPB	chr15:45027568-45027898	K562	blood:	n/a	n/a
30	PAX5	chr15:45027760-45028342	GM12878	blood:	n/a	chr15:45028079-45028088
31	BATF	chr15:45027600-45027937	GM12878	blood:	n/a	n/a
32	RCOR1	chr15:45027656-45029007	IMR90	lung:	n/a	n/a
33	CTCF	chr15:45027740-45027890	HVMF	connective:	n/a	n/a
34	MYC	chr15:45027709-45028210	K562	blood:	n/a	n/a
35	POLR2A	chr15:45027822-45028968	GM12892	blood:	n/a	n/a
36	ARID3A	chr15:45027625-45028381	K562	blood:	n/a	n/a
37	CEBPB	chr15:45027576-45028539	GM12878	blood:	n/a	n/a
38	MAZ	chr15:45027463-45028266	IMR90	lung:	n/a	n/a
39	RCOR1	chr15:45027564-45028880	K562	blood:	n/a	n/a
40	MAX	chr15:45027686-45028444	NB4	blood:	n/a	n/a
41	TBL1XR1	chr15:45027698-45028222	GM12878	blood:	n/a	n/a
42	SMC3	chr15:45027741-45028003	K562	blood:	n/a	n/a
43	EBF1	chr15:45027533-45028455	GM12878	blood:	n/a	chr15:45027724-45027735
44	STAT1	chr15:45027807-45028533	GM12878	blood:	n/a	chr15:45028034-45028045
45	EP300	chr15:45027581-45028408	K562	blood:	n/a	n/a
46	MAFK	chr15:45027692-45028189	K562	blood:	n/a	n/a
47	WRNIP1	chr15:45027682-45028356	GM12878	blood:	n/a	n/a
48	BHLHE40	chr15:45027671-45028288	K562	blood:	n/a	n/a
49	JUND	chr15:45027622-45028251	K562	blood:	n/a	n/a
50	NFIC	chr15:45027572-45028307	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45023381..45025448-chr15:45025750..45028382,2	K562	blood:

Variant related genes	Relation type
TRIM69	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11853269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16966424	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16974273	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17235843	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17235857	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17588305	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17589301	0.86[ASN][1000 genomes]
rs28812298	0.90[ASN][1000 genomes]
rs34569539	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3759880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3759882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759884	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4780	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7161853	0.86[CHB][hapmap];1.00[CHD][hapmap]
rs7164679	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7166053	0.90[ASN][1000 genomes]
rs7166101	0.90[ASN][1000 genomes]
rs7167254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7175030	0.97[ASN][1000 genomes]
rs7182487	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs8042457	0.90[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	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
2	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
4	nsv832990	chr15:44990765-45162714	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45022400-45028000	Weak transcription	Psoas Muscle	Psoas
2	chr15:45022600-45028000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr15:45022600-45028800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:45022800-45028000	Weak transcription	Fetal Kidney	kidney
5	chr15:45022800-45030800	Weak transcription	HUVEC	blood vessel
6	chr15:45023000-45028000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:45024000-45031200	Weak transcription	HMEC	breast
8	chr15:45024200-45028000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr15:45024200-45032200	Weak transcription	Right Atrium	heart
10	chr15:45024400-45028200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:45024400-45028200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr15:45024400-45028400	Weak transcription	Brain Hippocampus Middle	brain
13	chr15:45024400-45028800	Weak transcription	Lung	lung
14	chr15:45024400-45031200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:45024800-45028400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:45025000-45028000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:45025000-45028000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr15:45025000-45028600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:45025000-45030800	Weak transcription	Brain Angular Gyrus	brain
20	chr15:45025000-45030800	Weak transcription	Brain Anterior Caudate	brain
21	chr15:45025400-45028200	Weak transcription	Left Ventricle	heart
22	chr15:45025600-45028000	Weak transcription	Spleen	Spleen
23	chr15:45026000-45029000	Enhancers	Primary B cells from peripheral blood	blood
24	chr15:45026400-45029000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr15:45026400-45029000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:45026600-45028800	Enhancers	Primary T cells from cord blood	blood
27	chr15:45026600-45029000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:45026600-45029200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr15:45026800-45028000	Enhancers	Small Intestine	intestine
30	chr15:45026800-45029600	Enhancers	Primary B cells from cord blood	blood
31	chr15:45027000-45028400	Enhancers	NHDF-Ad	bronchial
32	chr15:45027000-45028800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:45027000-45029000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr15:45027000-45029000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:45027000-45029000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr15:45027200-45028000	Enhancers	Fetal Thymus	thymus
37	chr15:45027200-45028000	Enhancers	Ovary	ovary
38	chr15:45027200-45028200	Enhancers	NHLF	lung
39	chr15:45027200-45028400	Enhancers	Primary hematopoietic stem cells	blood
40	chr15:45027200-45028400	Enhancers	Stomach Smooth Muscle	stomach
41	chr15:45027200-45028600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr15:45027200-45028600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr15:45027200-45029000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr15:45027200-45029000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr15:45027200-45029000	Enhancers	Colon Smooth Muscle	Colon
46	chr15:45027200-45030800	Weak transcription	Brain Substantia Nigra	brain
47	chr15:45027600-45028000	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr15:45027600-45028000	Enhancers	Colonic Mucosa	Colon
49	chr15:45027600-45028200	Flanking Active TSS	Osteobl	bone
50	chr15:45027600-45028400	Flanking Active TSS	K562	blood

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