Variant report

Variant	rs12323665
Chromosome Location	chr14:64799385-64799386
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs17101765	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17179740	0.84[ASN][1000 genomes]
rs2987983	0.92[EUR][1000 genomes]
rs3020444	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3020450	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7154455	0.88[EUR][1000 genomes]
rs8011682	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8020356	0.88[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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv3423863	chr14:64799346-64799807	Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12323665	MTHFD1	Cis_1M	lymphoblastoid	RTeQTL
rs12323665	ESR2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64792000-64803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:64792000-64803800	Weak transcription	Osteobl	bone
3	chr14:64794000-64803200	Weak transcription	Hela-S3	cervix
4	chr14:64798600-64803800	Weak transcription	HMEC	breast
5	chr14:64799000-64803800	Weak transcription	HepG2	liver

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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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