Variant report

Variant	rs56054671
Chromosome Location	chr1:211077812-211077813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1125262	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1343144	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1604372	0.84[EUR][1000 genomes]
rs17017025	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17017026	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17017030	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17017032	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4325201	0.84[EUR][1000 genomes]
rs4634969	0.84[EUR][1000 genomes]
rs4951668	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4951679	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56144254	0.84[EUR][1000 genomes]
rs60645773	0.84[EUR][1000 genomes]
rs60927621	0.84[EUR][1000 genomes]
rs6699321	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74156847	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74156848	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9661403	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832503	chr1:210948760-211103163	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv4398	chr1:211034582-211079117	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv873154	chr1:211057697-211117197	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv549124	chr1:211069694-211088474	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211056800-211078800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:211068400-211078000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:211069000-211079400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:211070600-211078200	Weak transcription	HSMM	muscle
5	chr1:211074400-211078800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:211075800-211080600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:211076000-211080400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:211076200-211080000	Enhancers	Brain Cingulate Gyrus	brain
9	chr1:211077000-211080000	Enhancers	Brain Angular Gyrus	brain
10	chr1:211077000-211083000	Enhancers	Brain Hippocampus Middle	brain
11	chr1:211077400-211078000	Enhancers	HSMMtube	muscle
12	chr1:211077400-211078400	Weak transcription	Brain Substantia Nigra	brain
13	chr1:211077600-211078000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:211077600-211078800	Weak transcription	Brain Anterior Caudate	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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