Variant report

Variant	rs7696597
Chromosome Location	chr4:125786328-125786329
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10518450	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs10518451	1.00[JPT][hapmap]
rs13115210	0.88[EUR][1000 genomes]
rs13130715	0.85[EUR][1000 genomes]
rs13138940	0.91[EUR][1000 genomes]
rs17008594	0.86[JPT][hapmap]
rs17786141	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34893388	0.82[ASN][1000 genomes]
rs4834005	0.95[EUR][1000 genomes]
rs5005646	0.92[EUR][1000 genomes]
rs62323260	0.91[EUR][1000 genomes]
rs62323270	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323300	0.88[EUR][1000 genomes]
rs6813200	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6838658	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7675382	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv1011752	chr4:125708756-125932456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1001338	chr4:125708756-126103293	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv830050	chr4:125717858-125888563	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7696597	ANKRD50	cis	Artery Tibial	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125784000-125787200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:125784000-125788400	Weak transcription	HSMMtube	muscle
3	chr4:125784400-125787400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:125784400-125788000	Weak transcription	Osteobl	bone
5	chr4:125784600-125787200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:125785800-125786600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:125786200-125787000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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Input of quick search could be:

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

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