Variant report

Variant	rs73010809
Chromosome Location	chr3:143227260-143227261
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	POLR2A	chr3:143227158-143227358	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr3:143227062-143227391	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr3:143227257-143227294	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr3:143227017-143227276	MCF10A-Er-Src	breast:	n/a	chr3:143227042-143227052 chr3:143227042-143227052
5	MYC	chr3:143226865-143227268	MCF10A-Er-Src	breast:	n/a	chr3:143227042-143227052 chr3:143227042-143227052
6	FOS	chr3:143227093-143227380	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr3:143227235-143227363	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr3:143226966-143227362	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
GAPDHP47	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57446139	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57849310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58052469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58515515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61511523	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991961	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991973	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991989	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991990	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991992	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008894	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs838603	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv523529	chr3:143215472-143229569	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv518873	chr3:143220697-143237419	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143191400-143231000	Weak transcription	Primary B cells from cord blood	blood
2	chr3:143212600-143247400	Weak transcription	Primary T cells from cord blood	blood
3	chr3:143221200-143228200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:143223000-143256200	Weak transcription	Esophagus	oesophagus
5	chr3:143224000-143227400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:143224800-143228800	Enhancers	Dnd41	blood
7	chr3:143225600-143228200	Weak transcription	Fetal Lung	lung
8	chr3:143225600-143228800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:143226200-143227800	Enhancers	Osteobl	bone
10	chr3:143226200-143228000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:143226400-143227400	Enhancers	NHLF	lung
12	chr3:143226400-143228000	Enhancers	NHDF-Ad	bronchial
13	chr3:143226400-143228400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:143226400-143230000	Weak transcription	Pancreas	Pancrea
15	chr3:143226600-143227400	Enhancers	Brain Cingulate Gyrus	brain
16	chr3:143226600-143227800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:143226600-143228000	Enhancers	NH-A	brain
18	chr3:143226800-143227400	Enhancers	Adipose Nuclei	Adipose
19	chr3:143226800-143227600	Enhancers	Colon Smooth Muscle	Colon
20	chr3:143227000-143228800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:143227000-143230000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:143227200-143227400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:143227200-143227400	Enhancers	Brain Substantia Nigra	brain
24	chr3:143227200-143227400	Flanking Active TSS	HSMMtube	muscle
25	chr3:143227200-143227600	Weak transcription	HSMM	muscle
26	chr3:143227200-143228000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:143227200-143228400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:143227200-143244400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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