Variant report

Variant	rs56248764
Chromosome Location	chr3:139961979-139961980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55909253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56137512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56156172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62266224	0.85[EUR][1000 genomes]
rs62266225	0.85[EUR][1000 genomes]
rs62266226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62266258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62266259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62267961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62267962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62267963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62267964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62267965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62267972	1.00[EUR][1000 genomes]
rs62267997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62267999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62268001	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6807041	1.00[EUR][1000 genomes]
rs7640659	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829739	chr3:139797496-140002685	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv432486	chr3:139924092-140049121	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2757891	chr3:139925764-140524730	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2759181	chr3:139925764-140524730	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv829740	chr3:139925767-140106169	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv527831	chr3:139932966-140533823	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr3:139958600-139967400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:139961000-139962400	Enhancers	Psoas Muscle	Psoas
3	chr3:139961400-139962000	Enhancers	NHEK	skin
4	chr3:139961400-139962800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:139961400-139963000	Enhancers	Fetal Muscle Leg	muscle
6	chr3:139961400-139963200	Enhancers	Pancreas	Pancrea
7	chr3:139961400-139963400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:139961400-139963400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr3:139961400-139964800	Enhancers	HSMM	muscle
10	chr3:139961600-139962000	Enhancers	Ovary	ovary
11	chr3:139961600-139962000	Flanking Active TSS	HSMMtube	muscle
12	chr3:139961600-139962400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:139961600-139962600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:139961600-139962600	Enhancers	Fetal Heart	heart
15	chr3:139961600-139962600	Enhancers	Left Ventricle	heart
16	chr3:139961600-139962600	Enhancers	Right Ventricle	heart
17	chr3:139961600-139962800	Enhancers	Right Atrium	heart
18	chr3:139961600-139963200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr3:139961600-139964600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:139961800-139962400	Enhancers	NH-A	brain
21	chr3:139961800-139962600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:139961800-139962800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:139961800-139964800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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