Variant report

Variant	rs71458834
Chromosome Location	chr12:124528494-124528495
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124528285..124530233-chr12:125227892..125229575,2	K562	blood:
2	chr12:124520469..124523389-chr12:124526504..124528787,2	MCF-7	breast:
3	chr12:124528224..124529883-chr12:124531757..124534004,2	MCF-7	breast:
4	chr12:124528313..124529938-chr12:124541033..124543445,2	MCF-7	breast:
5	chr12:124521403..124524267-chr12:124525172..124528946,3	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	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12829378	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34331616	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34382598	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34680764	0.96[EUR][1000 genomes]
rs34766405	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35217054	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60938452	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6488915	0.96[EUR][1000 genomes]
rs71458831	1.00[EUR][1000 genomes]
rs71458833	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7296124	0.96[EUR][1000 genomes]
rs7956959	0.96[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124515000-124531800	Weak transcription	Fetal Intestine Small	intestine
2	chr12:124515400-124529600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:124521800-124528600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:124521800-124529400	Weak transcription	Brain Anterior Caudate	brain
5	chr12:124521800-124529400	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:124523600-124529800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:124523800-124529400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:124524000-124528800	Weak transcription	HMEC	breast
9	chr12:124524200-124529400	Weak transcription	HSMMtube	muscle
10	chr12:124524200-124529600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:124524200-124529600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:124524200-124529600	Weak transcription	HSMM	muscle
13	chr12:124524600-124528600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:124525000-124530000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:124525200-124528600	Weak transcription	Spleen	Spleen
16	chr12:124526400-124530600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr12:124526800-124529600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:124526800-124531800	Weak transcription	Gastric	stomach
19	chr12:124527600-124529600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:124527800-124528800	Weak transcription	Placenta	Placenta
21	chr12:124528200-124531000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:124528200-124531000	Enhancers	Fetal Thymus	thymus
23	chr12:124528200-124531200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:124528400-124528600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr12:124528400-124528600	Enhancers	Fetal Brain Male	brain
26	chr12:124528400-124528800	Enhancers	Primary T cells from cord blood	blood
27	chr12:124528400-124529000	Enhancers	Thymus	Thymus
28	chr12:124528400-124529000	Enhancers	Dnd41	blood
29	chr12:124528400-124530200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr12:124528400-124530600	Enhancers	Fetal Muscle Trunk	muscle
31	chr12:124528400-124531000	Enhancers	Fetal Muscle Leg	muscle

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