Variant report

Variant	rs12623971
Chromosome Location	chr2:151146085-151146086
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	chr2:151144927..151147057-chr2:151340960..151343543,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115963	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10165225	0.87[EUR][1000 genomes]
rs10165666	0.87[EUR][1000 genomes]
rs10173947	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10209398	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11693655	0.87[EUR][1000 genomes]
rs11888189	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11895581	0.87[EUR][1000 genomes]
rs11899312	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12692649	0.87[EUR][1000 genomes]
rs13394286	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1372431	0.90[AMR][1000 genomes]
rs1372432	0.90[AMR][1000 genomes]
rs1372433	0.90[AMR][1000 genomes]
rs1441969	0.90[AMR][1000 genomes]
rs1441970	0.84[AMR][1000 genomes]
rs16828069	0.84[AMR][1000 genomes]
rs1978941	0.84[AMR][1000 genomes]
rs35956280	0.90[AMR][1000 genomes]
rs36025659	0.80[AMR][1000 genomes]
rs4233802	0.87[EUR][1000 genomes]
rs4299356	0.84[AMR][1000 genomes]
rs4362583	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4366927	0.85[EUR][1000 genomes]
rs4402789	0.87[EUR][1000 genomes]
rs4404295	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4414701	0.87[AMR][1000 genomes]
rs4425094	0.87[EUR][1000 genomes]
rs4425095	0.87[EUR][1000 genomes]
rs4491744	0.90[AMR][1000 genomes]
rs4508619	0.87[EUR][1000 genomes]
rs4522630	0.90[AMR][1000 genomes]
rs4544461	0.87[AMR][1000 genomes]
rs4563247	0.87[EUR][1000 genomes]
rs4566385	0.87[AMR][1000 genomes]
rs4577299	0.87[EUR][1000 genomes]
rs4585053	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4589784	0.84[AMR][1000 genomes]
rs4589785	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4600678	0.87[AMR][1000 genomes]
rs4603783	0.87[AMR][1000 genomes]
rs4606957	0.87[EUR][1000 genomes]
rs62167367	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62167368	0.84[AMR][1000 genomes]
rs62167369	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6731304	0.90[AMR][1000 genomes]
rs6748737	0.87[EUR][1000 genomes]
rs6761282	0.90[AMR][1000 genomes]
rs6761697	0.87[EUR][1000 genomes]
rs7560459	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7563730	0.87[EUR][1000 genomes]
rs7564257	0.87[EUR][1000 genomes]
rs7564743	0.87[EUR][1000 genomes]
rs7608140	0.80[EUR][1000 genomes]
rs7608904	0.87[AMR][1000 genomes]
rs9287819	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9287820	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	esv3336540	chr2:151144106-151147804	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv3443490	chr2:151144656-151147654	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151143200-151151600	Weak transcription	Aorta	Aorta
2	chr2:151143800-151149200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:151143800-151153000	Weak transcription	NHDF-Ad	bronchial
4	chr2:151144000-151148200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:151144000-151149400	Weak transcription	HMEC	breast
6	chr2:151144000-151150200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links