Variant report

Variant	rs12023010
Chromosome Location	chr1:94317443-94317444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000211575	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1051394	0.87[AFR][1000 genomes]
rs11165021	0.89[AFR][1000 genomes]
rs11165022	0.89[AFR][1000 genomes]
rs11165023	0.89[AFR][1000 genomes]
rs11165025	0.83[AFR][1000 genomes]
rs11165026	0.87[AFR][1000 genomes]
rs12029548	0.94[AFR][1000 genomes]
rs12097812	0.92[AFR][1000 genomes]
rs12758972	0.94[AFR][1000 genomes]
rs2092698	0.94[AFR][1000 genomes]
rs2092699	0.94[AFR][1000 genomes]
rs2103784	0.94[AFR][1000 genomes]
rs2143992	0.87[AFR][1000 genomes]
rs2273165	0.81[AFR][1000 genomes]
rs2391315	0.92[AFR][1000 genomes]
rs2391321	0.84[AFR][1000 genomes]
rs4847191	0.84[AFR][1000 genomes]
rs4847263	0.89[AFR][1000 genomes]
rs4847264	0.86[AFR][1000 genomes]
rs6666633	0.91[AFR][1000 genomes]
rs6681169	0.92[AFR][1000 genomes]
rs6681265	0.94[AFR][1000 genomes]
rs6684054	0.89[AFR][1000 genomes]
rs6697189	0.84[AFR][1000 genomes]
rs7513786	0.84[AFR][1000 genomes]
rs7514828	0.87[AFR][1000 genomes]
rs7517632	0.89[AFR][1000 genomes]
rs7555136	0.84[AFR][1000 genomes]
rs7556047	0.82[AFR][1000 genomes]
rs7556107	0.84[AFR][1000 genomes];0.80[AMR][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	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12023010	RP11-488P3.1	cis	lung	GTEx
rs12023010	DNTTIP2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94314200-94332800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:94314200-94334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:94314200-94334400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:94316400-94318200	Weak transcription	Hela-S3	cervix
5	chr1:94317400-94317800	Active TSS	Breast Myoepithelial Primary Cells	Breast

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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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