Variant report

Variant	rs1716403
Chromosome Location	chr12:124519846-124519847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124519084..124525003-chr12:124802273..124805989,6	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10846598	1.00[ASN][1000 genomes]
rs1631624	1.00[ASN][1000 genomes]
rs1686728	1.00[ASN][1000 genomes]
rs1716378	1.00[ASN][1000 genomes]
rs1716385	1.00[ASN][1000 genomes]
rs1716409	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2451323	1.00[ASN][1000 genomes]
rs2451325	1.00[ASN][1000 genomes]
rs4765041	1.00[ASN][1000 genomes]
rs707333	1.00[ASN][1000 genomes]
rs7138055	1.00[ASN][1000 genomes]
rs825454	1.00[ASN][1000 genomes]
rs825457	1.00[ASN][1000 genomes]
rs825464	1.00[ASN][1000 genomes]
rs825466	1.00[ASN][1000 genomes]
rs825479	1.00[ASN][1000 genomes]
rs825497	1.00[ASN][1000 genomes]
rs861131	1.00[ASN][1000 genomes]
rs866640	1.00[ASN][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

Variant related diseases (count:1)

Disease	PMID	Source
Response to fenofibrate (adiponectin levels)	23149075	GWAS catalog

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124499600-124521400	Weak transcription	Brain Germinal Matrix	brain
2	chr12:124510600-124520600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:124511800-124521000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:124512400-124520600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:124513600-124523400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:124515000-124526000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:124515000-124531800	Weak transcription	Fetal Intestine Small	intestine
8	chr12:124515200-124521000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:124515400-124521000	Weak transcription	Fetal Stomach	stomach
10	chr12:124515400-124528400	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:124515400-124529600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:124515600-124520600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:124515600-124521000	Weak transcription	Fetal Thymus	thymus
14	chr12:124515600-124521000	Weak transcription	A549	lung
15	chr12:124516800-124520800	Weak transcription	HSMM	muscle
16	chr12:124517000-124520600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:124517000-124520600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:124517000-124520600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:124517000-124520800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:124517000-124521000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:124517000-124521000	Weak transcription	NH-A	brain
22	chr12:124517000-124521000	Weak transcription	NHDF-Ad	bronchial
23	chr12:124517000-124521400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:124517000-124521400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:124517200-124520800	Weak transcription	Osteobl	bone
26	chr12:124517200-124521400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:124518400-124520800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:124518800-124520000	Enhancers	HSMMtube	muscle
29	chr12:124519200-124525000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:124519600-124521600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:124519600-124523400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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