Variant report

Variant	rs4700230
Chromosome Location	chr5:57115345-57115346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12519846	0.99[ASN][1000 genomes]
rs1347072	0.83[ASN][1000 genomes]
rs1347073	0.83[ASN][1000 genomes]
rs1432477	0.83[ASN][1000 genomes]
rs1432480	0.83[ASN][1000 genomes]
rs1432481	0.83[ASN][1000 genomes]
rs1816391	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1835873	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1835875	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1835876	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053013	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215813	0.83[ASN][1000 genomes]
rs2539732	0.83[ASN][1000 genomes]
rs2539734	0.83[ASN][1000 genomes]
rs2568533	0.84[ASN][1000 genomes]
rs2568534	0.83[ASN][1000 genomes]
rs2568535	0.83[ASN][1000 genomes]
rs2568536	0.83[ASN][1000 genomes]
rs2898030	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898031	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2898032	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34152283	0.85[ASN][1000 genomes]
rs34711481	0.89[ASN][1000 genomes]
rs35483666	1.00[ASN][1000 genomes]
rs4700229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360111	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6450440	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6450441	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6892809	0.99[ASN][1000 genomes]
rs757635	0.83[ASN][1000 genomes]
rs7701201	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs854025	0.84[ASN][1000 genomes]
rs854026	0.84[ASN][1000 genomes]
rs854027	0.84[ASN][1000 genomes]
rs854030	0.84[ASN][1000 genomes]
rs854032	0.84[ASN][1000 genomes]
rs854034	0.84[ASN][1000 genomes]
rs887868	0.83[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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57113200-57119600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:57114000-57118000	Weak transcription	HMEC	breast
3	chr5:57114200-57115600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:57114200-57118000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:57114200-57119000	Weak transcription	NH-A	brain
6	chr5:57114200-57119400	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links