Variant report

Variant	rs59785320
Chromosome Location	chr2:134473795-134473796
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:134473702..134475846-chr2:134476635..134479114,2	MCF-7	breast:
2	chr2:134468524..134472255-chr2:134473373..134475498,3	MCF-7	breast:
3	chr2:134469703..134471352-chr2:134471978..134474907,2	MCF-7	breast:
4	chr2:134464016..134466489-chr2:134473562..134476020,2	MCF-7	breast:
5	chr2:134466669..134468289-chr2:134473564..134475862,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16829423	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16829506	1.00[EUR][1000 genomes]
rs16829743	1.00[EUR][1000 genomes]
rs34979285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56170261	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57028673	1.00[EUR][1000 genomes]
rs58799403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59471650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61290996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61465743	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6430445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6726548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745294	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6753469	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6757963	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73002520	0.85[AMR][1000 genomes]
rs73003855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005709	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005714	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005722	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005734	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73007661	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73957243	1.00[EUR][1000 genomes]
rs73960110	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584447	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7589010	0.84[AFR][1000 genomes];0.85[AMR][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	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134468000-134477200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:134469200-134474600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:134469400-134474600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:134469400-134475400	Weak transcription	Brain Substantia Nigra	brain
5	chr2:134471200-134474800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:134472200-134474800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:134473600-134474000	Enhancers	Esophagus	oesophagus
8	chr2:134473600-134474000	Enhancers	Lung	lung

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