Variant report

Variant	rs12821697
Chromosome Location	chr12:58737167-58737168
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	chr12:58702936..58706179-chr12:58735514..58738404,3	MCF-7	breast:
2	chr12:58736391..58738065-chr12:58925171..58927008,2	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]
rs12371558	0.89[EUR][1000 genomes]
rs12809368	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12811162	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12814536	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12815062	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12815629	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12819933	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12821169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12825103	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs12825241	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12825591	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12827037	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12827543	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12827635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827699	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12827939	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12829681	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12830609	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34720173	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35248874	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35811474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4760197	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4760198	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4760199	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4760200	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4760201	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4760202	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4760203	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4760204	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4760205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760207	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71432326	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7958950	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7978543	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7979174	0.88[AMR][1000 genomes];0.85[EUR][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	nsv899124	chr12:58391839-58883507	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv730	chr12:58698792-58759096	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv84	chr12:58720676-58746311	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv510602	chr12:58722449-58770942	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58731600-58746600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:58731800-58738200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:58735400-58737200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr12:58735600-58738400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:58735600-58738400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:58736200-58737800	Enhancers	HSMM	muscle
7	chr12:58736200-58738200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:58736400-58737200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:58736400-58742400	Weak transcription	NHLF	lung
10	chr12:58736600-58738200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:58736600-58738200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:58736600-58741200	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:58736800-58740200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:58736800-58741000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:58736800-58741400	Weak transcription	Fetal Stomach	stomach
16	chr12:58736800-58751800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:58737000-58737400	Weak transcription	HUVEC	blood vessel
18	chr12:58737000-58740200	Weak transcription	NHDF-Ad	bronchial

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