Variant report

Variant	rs11830957
Chromosome Location	chr12:122925296-122925297
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122905519..122907885-chr12:122922544..122925383,2	MCF-7	breast:
2	chr12:122921855..122923371-chr12:122925015..122926567,2	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10161488	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10744218	0.92[EUR][1000 genomes]
rs10773090	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10773108	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10773117	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10773162	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10846714	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10846852	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846871	0.98[ASN][1000 genomes]
rs10846899	0.85[ASN][1000 genomes]
rs10846912	0.92[EUR][1000 genomes]
rs11057813	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11057819	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11058178	0.81[ASN][1000 genomes]
rs11058272	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11503023	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12314537	0.92[EUR][1000 genomes]
rs12812332	0.93[EUR][1000 genomes]
rs12818177	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12819355	0.82[ASN][1000 genomes]
rs12829449	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1392142	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1532579	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1553178	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2341438	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3825096	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4758664	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4758693	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4758695	0.84[ASN][1000 genomes]
rs61021925	0.81[EUR][1000 genomes]
rs6488947	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7305360	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7313121	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7313284	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7953204	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7955241	0.85[ASN][1000 genomes]
rs7959550	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7961258	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7964981	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7970007	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7972832	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7973480	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7978119	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9788228	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv973945	chr12:122923254-122958354	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 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	chr12:122922800-122931200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:122922800-122931600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
4	chr12:122923400-122931000	Weak transcription	Hela-S3	cervix
5	chr12:122924000-122926000	Weak transcription	HepG2	liver
6	chr12:122925200-122926400	Enhancers	Placenta	Placenta

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