Variant report

Variant	rs12311479
Chromosome Location	chr12:121114976-121114977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121114453..121120002-chr12:121123011..121126758,6	MCF-7	breast:
2	chr12:121114045..121117293-chr12:121162367..121164936,3	K562	blood:
3	chr12:121114876..121117771-chr12:121122511..121125011,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110917	Chromatin interaction
ENSG00000122971	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12828810	0.87[ASN][1000 genomes]
rs12829722	0.87[ASN][1000 genomes]
rs2066938	0.87[ASN][1000 genomes]
rs2239758	0.81[ASN][1000 genomes]
rs3021337	0.81[ASN][1000 genomes]
rs34030695	0.87[ASN][1000 genomes]
rs34734847	0.84[ASN][1000 genomes]
rs35360964	0.81[ASN][1000 genomes]
rs35525135	0.93[ASN][1000 genomes]
rs35599677	0.93[ASN][1000 genomes]
rs35771722	0.87[ASN][1000 genomes]
rs3752531	0.84[ASN][1000 genomes]
rs3999408	0.81[ASN][1000 genomes]
rs55730005	0.84[ASN][1000 genomes]
rs56273049	0.84[ASN][1000 genomes]
rs57830821	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60858026	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71454661	0.93[ASN][1000 genomes]
rs7306541	0.93[ASN][1000 genomes]
rs7313271	0.87[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121107200-121118200	Weak transcription	Left Ventricle	heart
2	chr12:121107400-121118200	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:121107400-121123400	Weak transcription	Right Atrium	heart
4	chr12:121107600-121115400	Weak transcription	A549	lung
5	chr12:121108200-121115400	Enhancers	GM12878-XiMat	blood
6	chr12:121108600-121115200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:121108600-121118000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:121110400-121116200	Enhancers	Primary B cells from cord blood	blood
9	chr12:121112400-121115400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:121112400-121115400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr12:121112400-121115400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:121112800-121115400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:121113000-121115400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:121113200-121115800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:121114600-121115400	Enhancers	HUVEC	blood vessel
16	chr12:121114600-121116800	Enhancers	NHEK	skin
17	chr12:121114600-121119200	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:121114800-121115200	Enhancers	Primary hematopoietic stem cells	blood
19	chr12:121114800-121115400	Weak transcription	Spleen	Spleen

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