Variant report

Variant	rs12500340
Chromosome Location	chr4:60464525-60464526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10517468	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11933392	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12501563	0.83[ASN][1000 genomes]
rs1513534	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28619161	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6833852	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6841789	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879048	chr4:60053789-60512343	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1012748	chr4:60385942-60546407	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007782	chr4:60385942-60550708	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1003847	chr4:60406832-60538697	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv537107	chr4:60406832-60538697	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2760852	chr4:60424576-60863454	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1002303	chr4:60436293-60506680	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv879052	chr4:60458820-60538549	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:60462800-60464600	Enhancers	Brain Hippocampus Middle	brain
2	chr4:60462800-60465400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:60463200-60464600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr4:60463200-60464600	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr4:60463200-60464600	Enhancers	Fetal Intestine Small	intestine
6	chr4:60463600-60464800	Enhancers	Brain Angular Gyrus	brain
7	chr4:60463600-60465000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:60464000-60465000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:60464200-60464800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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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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