Variant report

Variant	rs7593121
Chromosome Location	chr2:115958119-115958120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10204084	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11123286	0.90[ASN][1000 genomes]
rs11123287	0.90[ASN][1000 genomes]
rs11123290	0.82[ASN][1000 genomes]
rs11675397	0.95[ASN][1000 genomes]
rs11693764	0.84[ASN][1000 genomes]
rs12472611	0.88[ASN][1000 genomes]
rs12616330	0.91[ASN][1000 genomes]
rs17355679	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4257411	0.85[ASN][1000 genomes]
rs62167281	0.85[ASN][1000 genomes]
rs7562666	0.84[ASN][1000 genomes]
rs7572788	0.86[ASN][1000 genomes]
rs9653426	0.95[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	nsv1014713	chr2:115858427-116018055	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1001542	chr2:115920847-116082585	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv834339	chr2:115953298-116132979	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7593121	DAPK1	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115948200-115964000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:115957400-115958400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:115957400-115959400	Enhancers	Fetal Stomach	stomach
4	chr2:115957600-115958200	Enhancers	Colon Smooth Muscle	Colon
5	chr2:115957800-115958200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:115958000-115958400	Enhancers	Fetal Kidney	kidney
7	chr2:115958000-115959600	Enhancers	Fetal Lung	lung

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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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