Variant report

Variant	rs60567086
Chromosome Location	chr12:10253808-10253809
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	chr12:10253623-10254114	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr12:10253605-10254025	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr12:10253570-10254100	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr12:10253579-10253967	MCF10A-Er-Src	breast:	n/a	n/a
5	TCF7L2	chr12:10253684-10254340	PANC-1	pancreas:	n/a	n/a
6	FOS	chr12:10253600-10253949	MCF10A-Er-Src	breast:	n/a	n/a
7	EGR1	chr12:10253671-10254161	MCF-7	breast:	n/a	n/a
8	STAT3	chr12:10253578-10254074	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr12:10253717-10253917	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr12:10253653-10254073	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr12:10253759-10254029	MCF10A-Er-Src	breast:	n/a	n/a
12	ZNF217	chr12:10253755-10254071	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:10253800-10253950	NHEK	skin:	n/a	n/a

Variant related genes	Relation type
CLEC1A	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11053588	0.86[EUR][1000 genomes]
rs16909966	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16910035	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55738961	0.86[EUR][1000 genomes]
rs55767325	0.86[EUR][1000 genomes]
rs56000846	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56018947	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61918621	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10250600-10254200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr12:10251000-10254600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:10251400-10255400	Enhancers	Placenta	Placenta
4	chr12:10252400-10254000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:10252400-10255800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:10253000-10255000	Enhancers	Fetal Stomach	stomach
7	chr12:10253200-10255000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr12:10253400-10254200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:10253400-10254200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr12:10253400-10254400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:10253400-10254400	Enhancers	Adipose Nuclei	Adipose
12	chr12:10253400-10254400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:10253400-10254400	Enhancers	Right Atrium	heart
14	chr12:10253400-10254400	Enhancers	NHDF-Ad	bronchial
15	chr12:10253400-10254600	Enhancers	Fetal Lung	lung
16	chr12:10253400-10254600	Enhancers	Fetal Muscle Leg	muscle
17	chr12:10253400-10254600	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr12:10253400-10254600	Enhancers	HMEC	breast
19	chr12:10253600-10254000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:10253600-10254000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:10253600-10254000	Active TSS	Colon Smooth Muscle	Colon
22	chr12:10253600-10254000	Enhancers	HUVEC	blood vessel
23	chr12:10253600-10254200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:10253600-10254200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:10253600-10254200	Enhancers	Aorta	Aorta
26	chr12:10253600-10254200	Enhancers	Colonic Mucosa	Colon
27	chr12:10253600-10254200	Enhancers	Lung	lung
28	chr12:10253600-10254400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:10253600-10254400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:10253600-10254400	Weak transcription	Fetal Kidney	kidney
31	chr12:10253600-10254400	Enhancers	Left Ventricle	heart
32	chr12:10253600-10254600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:10253600-10255400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:10253800-10254000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr12:10253800-10254000	Enhancers	Small Intestine	intestine
36	chr12:10253800-10254200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:10253800-10254200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr12:10253800-10254200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:10253800-10254200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:10253800-10254200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr12:10253800-10254200	Enhancers	Ovary	ovary
42	chr12:10253800-10254200	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr12:10253800-10254200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr12:10253800-10254200	Enhancers	NHEK	skin
45	chr12:10253800-10254400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:10253800-10254400	Enhancers	Brain Hippocampus Middle	brain
47	chr12:10253800-10254400	Enhancers	Esophagus	oesophagus
48	chr12:10253800-10254400	Enhancers	Fetal Thymus	thymus
49	chr12:10253800-10254600	Enhancers	Primary hematopoietic stem cells	blood
50	chr12:10253800-10254600	Enhancers	Skeletal Muscle Female	skeletal muscle

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