Variant report

Variant	rs17583519
Chromosome Location	chr12:43311598-43311599
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17505252	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17505804	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4307771	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56198345	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73125901	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73127803	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73127810	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73129823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17583519	DACT3	trans	lymphoblastoid	seeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43287800-43316600	Weak transcription	Fetal Brain Male	brain
2	chr12:43299600-43316000	Weak transcription	Psoas Muscle	Psoas
3	chr12:43305000-43314800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:43306000-43312000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:43307800-43315400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:43310000-43312000	Weak transcription	Fetal Heart	heart
7	chr12:43310000-43315600	Weak transcription	Fetal Intestine Small	intestine
8	chr12:43310800-43315000	Weak transcription	Fetal Intestine Large	intestine

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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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