Variant report

Variant	rs12296120
Chromosome Location	chr12:46737591-46737592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46737302..46738856-chr12:46747775..46750068,2	K562	blood:
2	chr12:46735641..46738339-chr12:46748312..46750267,2	MCF-7	breast:
3	chr12:46735335..46740420-chr12:46762976..46767704,6	MCF-7	breast:
4	chr12:46736349..46738676-chr12:46759246..46761971,2	MCF-7	breast:
5	chr12:46736517..46738567-chr12:46764679..46766585,2	K562	blood:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10785620	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10785624	0.85[EUR][1000 genomes]
rs10880953	0.85[ASN][1000 genomes]
rs10880956	0.80[AFR][1000 genomes]
rs10880962	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11183441	0.84[ASN][1000 genomes]
rs12307969	0.93[EUR][1000 genomes]
rs12311507	0.85[ASN][1000 genomes]
rs12317787	0.87[ASN][1000 genomes]
rs12320197	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12816413	0.85[ASN][1000 genomes]
rs1471223	0.86[ASN][1000 genomes]
rs1492894	0.86[ASN][1000 genomes]
rs1873793	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2169030	0.87[ASN][1000 genomes]
rs2279559	0.87[EUR][1000 genomes]
rs2408505	0.83[ASN][1000 genomes]
rs2408508	0.87[ASN][1000 genomes]
rs34119192	0.83[ASN][1000 genomes]
rs35377637	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4238102	0.85[ASN][1000 genomes]
rs4438106	0.82[ASN][1000 genomes]
rs4547171	0.87[ASN][1000 genomes]
rs4768115	0.87[ASN][1000 genomes]
rs4768116	0.87[ASN][1000 genomes]
rs4768695	0.84[ASN][1000 genomes]
rs7132228	0.87[ASN][1000 genomes]
rs7972573	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7979514	0.84[ASN][1000 genomes]
rs898242	0.84[ASN][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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv3423694	chr12:46733685-46745567	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46736200-46737600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:46736200-46737600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:46736200-46737800	Enhancers	HMEC	breast
4	chr12:46736600-46737600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:46736600-46737600	Enhancers	Pancreas	Pancrea
6	chr12:46736800-46737600	Enhancers	Gastric	stomach
7	chr12:46736800-46743000	Weak transcription	Right Ventricle	heart
8	chr12:46737000-46745800	Weak transcription	Adipose Nuclei	Adipose
9	chr12:46737200-46737800	Enhancers	Hela-S3	cervix
10	chr12:46737200-46754800	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links