Variant report

Variant	rs4768731
Chromosome Location	chr12:46899391-46899392
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	chr12:46897498..46899915-chr12:46900125..46903070,2	MCF-7	breast:
2	chr12:46894664..46897223-chr12:46898115..46901985,3	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10785631	1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880975	0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880976	1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880977	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880980	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11183507	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183527	0.90[YRI][hapmap]
rs11183536	0.87[AMR][1000 genomes]
rs11504523	0.96[EUR][1000 genomes]
rs11829502	0.80[EUR][1000 genomes]
rs11831177	0.96[EUR][1000 genomes]
rs11836915	0.82[EUR][1000 genomes]
rs12300125	0.90[AMR][1000 genomes]
rs12580121	0.85[EUR][1000 genomes]
rs1946175	0.93[AMR][1000 genomes]
rs2193662	0.86[AMR][1000 genomes]
rs2408577	0.88[AMR][1000 genomes]
rs2430940	0.89[YRI][hapmap];0.93[AMR][1000 genomes]
rs2471581	0.82[EUR][1000 genomes]
rs2471583	0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2471601	0.93[AMR][1000 genomes]
rs4073924	0.82[EUR][1000 genomes]
rs4768125	0.87[AMR][1000 genomes]
rs4768735	0.89[YRI][hapmap]
rs56399247	0.82[EUR][1000 genomes]
rs57158113	0.82[EUR][1000 genomes]
rs57439008	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59521025	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60432604	0.82[EUR][1000 genomes]
rs6582666	0.90[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7295471	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7302876	0.80[EUR][1000 genomes]
rs73290364	0.92[EUR][1000 genomes]
rs73290381	0.82[EUR][1000 genomes]
rs74085431	0.96[EUR][1000 genomes]
rs9783500	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[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	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 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	chr12:46888600-46909200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:46890800-46899600	Weak transcription	NH-A	brain
3	chr12:46893400-46911600	Weak transcription	Osteobl	bone
4	chr12:46897200-46899600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:46897800-46899600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:46897800-46899600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr12:46899000-46899600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:46899000-46899800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:46899000-46900200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:46899200-46899400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:46899200-46901400	ZNF genes & repeats	NHEK	skin

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