Variant report

Variant	rs12497675
Chromosome Location	chr3:100712764-100712765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10936494	0.81[EUR][1000 genomes]
rs12630437	0.81[EUR][1000 genomes]
rs12630679	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12632186	0.82[EUR][1000 genomes]
rs1449311	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1449319	0.81[EUR][1000 genomes]
rs1551040	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1839297	0.80[EUR][1000 genomes]
rs1900908	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1972991	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2873446	0.80[AMR][1000 genomes]
rs4568178	0.81[EUR][1000 genomes]
rs4928108	0.81[EUR][1000 genomes]
rs7611522	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9290276	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9883684	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2757881	chr3:100613387-100776497	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759163	chr3:100613387-100776497	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100709200-100713000	Active TSS	Stomach Smooth Muscle	stomach
2	chr3:100710000-100712800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:100710000-100712800	Active TSS	Fetal Lung	lung
4	chr3:100710400-100712800	Active TSS	Rectal Smooth Muscle	rectum
5	chr3:100711200-100712800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr3:100711600-100712800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:100711800-100713000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:100712400-100712800	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:100712400-100712800	Enhancers	HSMM	muscle
10	chr3:100712400-100712800	Enhancers	HUVEC	blood vessel
11	chr3:100712400-100712800	Enhancers	Osteobl	bone
12	chr3:100712400-100713000	Enhancers	HSMMtube	muscle
13	chr3:100712600-100712800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:100712600-100712800	Weak transcription	Fetal Intestine Large	intestine
15	chr3:100712600-100713000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:100712600-100713000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:100712600-100713000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:100712600-100713000	Enhancers	Brain Substantia Nigra	brain
19	chr3:100712600-100713000	Enhancers	Fetal Kidney	kidney
20	chr3:100712600-100713200	Enhancers	NHDF-Ad	bronchial
21	chr3:100712600-100713400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr3:100712600-100713800	Enhancers	Colon Smooth Muscle	Colon
23	chr3:100712600-100714200	Enhancers	Fetal Stomach	stomach

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