Variant report

Variant	rs17424500
Chromosome Location	chr1:56752752-56752753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11206765	0.81[EUR][1000 genomes]
rs12075857	0.81[EUR][1000 genomes]
rs12075995	0.81[EUR][1000 genomes]
rs12076123	0.81[EUR][1000 genomes]
rs12077346	0.81[EUR][1000 genomes]
rs12077564	0.81[EUR][1000 genomes]
rs12081440	0.81[EUR][1000 genomes]
rs12082680	0.81[EUR][1000 genomes]
rs12567619	0.81[EUR][1000 genomes]
rs17113677	0.81[AFR][1000 genomes]
rs17113689	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17424899	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17425099	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17425772	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17458279	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17459027	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2000141	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2000142	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2404528	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55633488	0.81[EUR][1000 genomes]
rs55742346	0.81[EUR][1000 genomes]
rs56022955	0.81[EUR][1000 genomes]
rs56237067	0.81[EUR][1000 genomes]
rs61379230	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72660452	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72660457	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72677472	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006422	chr1:56734772-56828606	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv534972	chr1:56734772-56828606	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56745400-56757000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:56748400-56759600	Weak transcription	Aorta	Aorta
3	chr1:56750000-56753400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:56750200-56752800	Enhancers	Adipose Nuclei	Adipose
5	chr1:56750200-56752800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr1:56750200-56753000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr1:56751000-56752800	Enhancers	Psoas Muscle	Psoas
8	chr1:56751000-56753000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:56751000-56753200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:56751000-56753600	Enhancers	Placenta	Placenta
11	chr1:56751000-56753600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:56751200-56752800	Enhancers	Right Atrium	heart
13	chr1:56751200-56753400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:56751200-56753400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:56751200-56756000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:56751400-56756800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:56751400-56757600	Weak transcription	Pancreas	Pancrea
18	chr1:56751800-56756800	Weak transcription	Lung	lung
19	chr1:56752000-56753200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:56752000-56756800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:56752000-56757000	Weak transcription	Fetal Stomach	stomach
22	chr1:56752000-56757000	Weak transcription	HSMMtube	muscle
23	chr1:56752200-56753000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:56752200-56753600	Weak transcription	HepG2	liver
25	chr1:56752600-56752800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:56752600-56752800	Enhancers	Left Ventricle	heart
27	chr1:56752600-56756800	Weak transcription	Fetal Muscle Leg	muscle

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