Variant report

Variant	rs34962616
Chromosome Location	chr5:57153542-57153543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57153108..57154848-chr5:57753681..57756204,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10461438	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10461639	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10487616	0.87[ASN][1000 genomes]
rs11740778	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11744848	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12516650	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13156567	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13169816	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13175128	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13181681	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1972768	0.83[EUR][1000 genomes]
rs2898071	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34194290	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34269594	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34275130	0.82[ASN][1000 genomes]
rs34511346	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34645667	0.82[ASN][1000 genomes]
rs35497805	0.82[ASN][1000 genomes]
rs35602156	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35694981	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4323195	0.83[EUR][1000 genomes]
rs56029970	0.82[ASN][1000 genomes]
rs66639127	0.82[ASN][1000 genomes]
rs68023515	0.82[ASN][1000 genomes]
rs72751331	0.89[AMR][1000 genomes];0.88[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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57150600-57154800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:57151000-57154400	Weak transcription	Right Atrium	heart
3	chr5:57151200-57158200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:57151400-57154000	Enhancers	HMEC	breast
5	chr5:57151400-57160000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:57152400-57153800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:57152600-57155800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:57153000-57153800	Enhancers	Fetal Heart	heart
9	chr5:57153400-57153600	Enhancers	HSMM	muscle
10	chr5:57153400-57153600	Flanking Active TSS	NHEK	skin
11	chr5:57153400-57154600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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