Variant report

Variant	rs56138616
Chromosome Location	chr8:11287550-11287551
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	FOS	chr8:11287414-11288181	MCF10A-Er-Src	breast:	n/a	chr8:11287557-11287571 chr8:11287570-11287580 chr8:11287571-11287579
2	MYC	chr8:11287423-11288182	MCF10A-Er-Src	breast:	n/a	chr8:11287848-11287857
3	FOS	chr8:11287403-11288106	MCF10A-Er-Src	breast:	n/a	chr8:11287557-11287571 chr8:11287570-11287580 chr8:11287571-11287579
4	POLR2A	chr8:11287493-11287994	Raji	blood:	n/a	n/a
5	CTCF	chr8:11287480-11287630	HRPEpiC	eye:	n/a	n/a
6	FOS	chr8:11287423-11288084	MCF10A-Er-Src	breast:	n/a	chr8:11287557-11287571 chr8:11287570-11287580 chr8:11287571-11287579
7	FOS	chr8:11287424-11288131	MCF10A-Er-Src	breast:	n/a	chr8:11287557-11287571 chr8:11287570-11287580 chr8:11287571-11287579
8	STAT3	chr8:11287475-11288175	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr8:11287442-11288181	MCF10A-Er-Src	breast:	n/a	chr8:11287848-11287857

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11286965..11287640-chr8:11410754..11411417,2	MCF-7	breast:

Variant related genes	Relation type
C8orf12	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12115021	0.85[EUR][1000 genomes]
rs2001462	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3021512	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3021517	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3021518	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55764254	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56003968	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56235592	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56286613	0.87[EUR][1000 genomes]
rs56388647	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58319820	0.81[EUR][1000 genomes]
rs58387061	0.83[EUR][1000 genomes]
rs60320871	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66934548	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67350204	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67526040	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67539049	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67684445	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67909842	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67932868	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs68063127	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73207493	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73207496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73207500	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73209223	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73209241	0.90[EUR][1000 genomes]
rs73209243	0.90[EUR][1000 genomes]
rs73209249	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73209250	0.90[EUR][1000 genomes]
rs73546310	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73546312	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7832089	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7835996	0.85[EUR][1000 genomes]
rs7839434	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv470183	chr8:11236975-11307118	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv465465	chr8:11245064-11307118	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	8 gene(s)	inside rSNPs	diseases
9	nsv610275	chr8:11245064-11307118	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv1792231	chr8:11278307-11289053	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11271600-11291000	Weak transcription	Pancreas	Pancrea
2	chr8:11276600-11291200	Weak transcription	Gastric	stomach
3	chr8:11279400-11288000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr8:11279800-11289600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:11280600-11308800	Weak transcription	Primary B cells from cord blood	blood
6	chr8:11280800-11297600	Weak transcription	Spleen	Spleen
7	chr8:11282200-11287600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr8:11283800-11288000	Enhancers	Brain Substantia Nigra	brain
9	chr8:11284200-11288400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:11284600-11287600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:11284600-11288000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:11284800-11287600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr8:11284800-11287800	Enhancers	Brain Angular Gyrus	brain
14	chr8:11284800-11288200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:11284800-11288200	Enhancers	Brain Hippocampus Middle	brain
16	chr8:11284800-11288600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:11285400-11287600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:11285800-11287800	Enhancers	Fetal Intestine Large	intestine
19	chr8:11285800-11287800	Enhancers	Fetal Intestine Small	intestine
20	chr8:11286000-11295200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:11286200-11287800	Enhancers	Primary T cells from cord blood	blood
22	chr8:11286200-11288000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:11286200-11288000	Enhancers	Fetal Brain Male	brain
24	chr8:11286200-11306400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:11286400-11287600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
26	chr8:11286400-11288200	Weak transcription	Brain Anterior Caudate	brain
27	chr8:11286400-11288400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:11286600-11288000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:11286600-11288000	Enhancers	Brain Germinal Matrix	brain
30	chr8:11286600-11288000	Enhancers	Fetal Heart	heart
31	chr8:11286600-11288400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:11286600-11288600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:11286600-11296200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:11286800-11287800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:11286800-11287800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:11286800-11288000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:11286800-11288000	Enhancers	Brain Cingulate Gyrus	brain
38	chr8:11286800-11288400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:11287000-11287800	Flanking Active TSS	Fetal Thymus	thymus
40	chr8:11287000-11287800	Enhancers	NHEK	skin
41	chr8:11287000-11288000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:11287000-11288000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:11287000-11288000	Enhancers	NHDF-Ad	bronchial
44	chr8:11287000-11289000	Enhancers	Placenta	Placenta
45	chr8:11287000-11289800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:11287200-11287800	Flanking Active TSS	Thymus	Thymus
47	chr8:11287200-11288000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:11287200-11288000	Enhancers	HSMM	muscle
49	chr8:11287200-11289800	Enhancers	Osteobl	bone
50	chr8:11287400-11287800	Enhancers	Right Atrium	heart

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