Variant report

Variant	rs4354753
Chromosome Location	chr12:44293620-44293621
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	chr12:44291890..44294959-chr12:44297148..44301402,3	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10506231	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs1057486	0.95[ASN][1000 genomes]
rs10736017	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10748378	0.97[ASN][1000 genomes]
rs10785462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10785463	0.97[ASN][1000 genomes]
rs10785466	0.97[ASN][1000 genomes]
rs10785469	0.88[ASN][1000 genomes]
rs10880573	0.90[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs10880578	0.94[ASN][1000 genomes]
rs10880585	0.97[ASN][1000 genomes]
rs11182273	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs11182275	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs11182280	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs11182290	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs11182293	0.82[CHB][hapmap];0.97[ASN][1000 genomes]
rs11182324	0.97[ASN][1000 genomes]
rs11182325	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1358705	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1406787	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1609548	0.97[ASN][1000 genomes]
rs1609549	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1610291	0.97[ASN][1000 genomes]
rs1614042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1621279	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1622590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1623829	0.83[ASN][1000 genomes]
rs1675756	0.97[ASN][1000 genomes]
rs1675758	0.97[ASN][1000 genomes]
rs1675764	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1675765	0.97[ASN][1000 genomes]
rs1675766	1.00[CEU][hapmap]
rs1675767	0.97[ASN][1000 genomes]
rs1675769	0.97[ASN][1000 genomes]
rs1675772	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1675781	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1675785	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1675787	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1675789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1675790	0.97[ASN][1000 genomes]
rs1731421	0.82[AFR][1000 genomes]
rs1731423	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1731427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1731429	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1731430	0.97[ASN][1000 genomes]
rs1731431	0.85[JPT][hapmap];0.97[ASN][1000 genomes]
rs1731432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1731434	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1731447	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1731449	1.00[CEU][hapmap]
rs1731452	0.97[ASN][1000 genomes]
rs1731453	1.00[CEU][hapmap]
rs1731454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1731456	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1731457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1731458	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1731459	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2219629	0.97[ASN][1000 genomes]
rs2407783	0.97[ASN][1000 genomes]
rs2447113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2614394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2699992	1.00[CEU][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2951435	0.94[ASN][1000 genomes]
rs3764004	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs4238089	0.97[ASN][1000 genomes]
rs4238090	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4238091	0.97[ASN][1000 genomes]
rs4363674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4469953	0.97[ASN][1000 genomes]
rs4537822	0.97[ASN][1000 genomes]
rs4572198	0.97[ASN][1000 genomes]
rs4572199	0.97[ASN][1000 genomes]
rs4609659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4768052	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768053	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs4768534	0.83[AFR][1000 genomes]
rs4768538	0.97[ASN][1000 genomes]
rs4768543	0.90[ASN][1000 genomes]
rs5019975	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6582484	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs7295151	0.97[ASN][1000 genomes]
rs7305609	0.97[ASN][1000 genomes]
rs73096934	0.97[ASN][1000 genomes]
rs7955615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7965240	0.83[ASN][1000 genomes]
rs7965330	0.83[ASN][1000 genomes]
rs7965635	1.00[CEU][hapmap]
rs7972025	0.90[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44279200-44297600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:44288000-44296000	Weak transcription	Psoas Muscle	Psoas
3	chr12:44289000-44293800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:44292400-44293800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:44292400-44294000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:44292400-44294800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:44292600-44294000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:44292600-44294000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:44292600-44294200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:44292800-44294200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:44292800-44294200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:44293000-44294600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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