Variant report

Variant	rs12829378
Chromosome Location	chr12:124516911-124516912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124456427..124458717-chr12:124514754..124517707,2	MCF-7	breast:
2	chr12:124501268..124502208-chr12:124516558..124517086,2	MCF-7	breast:
3	chr12:124285925..124286799-chr12:124516900..124517700,4	MCF-7	breast:
4	chr12:124516657..124517505-chr12:125251258..125252137,2	K562	blood:
5	chr12:124389600..124390517-chr12:124516534..124517510,2	K562	blood:

Variant related genes	Relation type
ENSG00000119242	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000178882	Chromatin interaction

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

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

rs_ID	r²[population]
rs12823498	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34331616	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34382598	1.00[EUR][1000 genomes]
rs34680764	0.96[EUR][1000 genomes]
rs34766405	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35217054	1.00[EUR][1000 genomes]
rs60938452	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6488915	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs71458831	1.00[EUR][1000 genomes]
rs71458833	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71458834	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296124	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7956959	1.00[CEU][hapmap];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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124498400-124517000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:124499600-124521400	Weak transcription	Brain Germinal Matrix	brain
3	chr12:124510200-124517400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:124510600-124518400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:124510600-124520600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:124511800-124521000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:124512400-124520600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:124513600-124523400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:124514400-124517000	Enhancers	NHDF-Ad	bronchial
10	chr12:124514400-124517000	Enhancers	NHLF	lung
11	chr12:124515000-124526000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:124515000-124531800	Weak transcription	Fetal Intestine Small	intestine
13	chr12:124515200-124521000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:124515400-124519000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:124515400-124521000	Weak transcription	Fetal Stomach	stomach
16	chr12:124515400-124528400	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:124515400-124529600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:124515600-124517000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:124515600-124517000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:124515600-124517200	Enhancers	Osteobl	bone
21	chr12:124515600-124517400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:124515600-124520600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:124515600-124521000	Weak transcription	Fetal Thymus	thymus
24	chr12:124515600-124521000	Weak transcription	A549	lung
25	chr12:124515800-124517000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:124515800-124517000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:124516000-124518800	Weak transcription	HSMMtube	muscle
28	chr12:124516600-124517000	Enhancers	Brain Cingulate Gyrus	brain
29	chr12:124516600-124517000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:124516800-124517000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:124516800-124517000	Enhancers	Adipose Nuclei	Adipose
32	chr12:124516800-124517000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr12:124516800-124517000	Enhancers	Stomach Smooth Muscle	stomach
34	chr12:124516800-124517000	Enhancers	NH-A	brain
35	chr12:124516800-124517200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:124516800-124520800	Weak transcription	HSMM	muscle

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