Variant report

Variant	rs71458833
Chromosome Location	chr12:124527215-124527216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124526142..124528216-chr12:125237039..125239742,2	MCF-7	breast:
2	chr12:124520469..124523389-chr12:124526504..124528787,2	MCF-7	breast:
3	chr12:124521403..124524267-chr12:124525172..124528946,3	K562	blood:
4	chr12:124524983..124527223-chr12:124529562..124531157,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12823498	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12829378	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34331616	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34382598	0.97[EUR][1000 genomes]
rs34680764	0.99[EUR][1000 genomes]
rs34766405	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35217054	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60938452	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6488915	0.99[EUR][1000 genomes]
rs71458831	0.97[EUR][1000 genomes]
rs71458834	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7296124	0.99[EUR][1000 genomes]
rs7956959	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899580	chr12:124499542-124565258	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124515000-124531800	Weak transcription	Fetal Intestine Small	intestine
2	chr12:124515400-124528400	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:124515400-124529600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:124521200-124528200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:124521600-124528400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:124521600-124528400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:124521800-124528400	Weak transcription	Fetal Brain Male	brain
8	chr12:124521800-124528600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:124521800-124529400	Weak transcription	Brain Anterior Caudate	brain
10	chr12:124521800-124529400	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:124522000-124528400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:124523600-124529800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:124523800-124529400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:124524000-124528800	Weak transcription	HMEC	breast
15	chr12:124524200-124528200	Weak transcription	Fetal Thymus	thymus
16	chr12:124524200-124529400	Weak transcription	HSMMtube	muscle
17	chr12:124524200-124529600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:124524200-124529600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:124524200-124529600	Weak transcription	HSMM	muscle
20	chr12:124524600-124528600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:124525000-124530000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:124525200-124528600	Weak transcription	Spleen	Spleen
23	chr12:124525600-124527800	Enhancers	Placenta	Placenta
24	chr12:124526400-124530600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:124526800-124529600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:124526800-124531800	Weak transcription	Gastric	stomach
27	chr12:124527200-124527600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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