Variant report

Variant	rs2706239
Chromosome Location	chr13:51314329-51314330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51309482..51311809-chr13:51312574..51314678,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1323886	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1853558	0.99[ASN][1000 genomes]
rs1853559	0.99[ASN][1000 genomes]
rs2492345	0.99[ASN][1000 genomes]
rs2540523	0.83[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2615123	0.99[ASN][1000 genomes]
rs2706228	0.93[ASN][1000 genomes]
rs2706229	0.95[ASN][1000 genomes]
rs2706234	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2706235	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2706241	0.99[ASN][1000 genomes]
rs2706242	0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2706244	0.99[ASN][1000 genomes]
rs2706245	0.93[ASN][1000 genomes]
rs2761840	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2761841	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2761842	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2761843	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs2761844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2761845	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2761846	0.99[ASN][1000 genomes]
rs2761847	0.90[ASN][1000 genomes]
rs2761849	1.00[ASN][1000 genomes]
rs2761850	1.00[ASN][1000 genomes]
rs2761851	1.00[ASN][1000 genomes]
rs2761852	1.00[ASN][1000 genomes]
rs2761853	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2761854	0.99[ASN][1000 genomes]
rs2761855	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2796881	0.86[CEU][hapmap]
rs2796882	0.86[CEU][hapmap]
rs2812235	0.99[ASN][1000 genomes]
rs2812237	0.81[EUR][1000 genomes]
rs2812238	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2812240	0.87[EUR][1000 genomes]
rs2812241	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2812242	0.99[ASN][1000 genomes]
rs2812243	0.96[ASN][1000 genomes]
rs2812244	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2812246	0.99[ASN][1000 genomes]
rs2812247	0.99[ASN][1000 genomes]
rs2812249	1.00[ASN][1000 genomes]
rs2812250	1.00[ASN][1000 genomes]
rs3118077	0.86[EUR][1000 genomes]
rs7328949	0.81[CHB][hapmap];0.84[CHD][hapmap];0.85[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	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1037350	chr13:51272518-51447354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51306000-51316800	Weak transcription	HSMM	muscle
2	chr13:51307800-51315000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:51312800-51314600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr13:51313200-51314600	Enhancers	Brain Hippocampus Middle	brain
5	chr13:51313400-51315000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:51313600-51314800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:51313800-51314400	Enhancers	Brain Substantia Nigra	brain
8	chr13:51313800-51314600	Enhancers	Brain Cingulate Gyrus	brain
9	chr13:51313800-51315000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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