Variant report

Variant	rs831427
Chromosome Location	chr12:104054434-104054435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1650123	0.82[ASN][1000 genomes]
rs1650124	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs703623	0.90[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs703624	0.90[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs703625	0.90[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs703627	0.82[ASN][1000 genomes]
rs703632	0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs703633	0.91[ASN][1000 genomes]
rs703635	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs703636	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs703637	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs703639	1.00[GIH][hapmap];0.93[TSI][hapmap]
rs703640	0.90[GIH][hapmap];0.92[TSI][hapmap]
rs703643	1.00[GIH][hapmap];0.89[TSI][hapmap]
rs703645	0.89[GIH][hapmap]
rs7958947	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][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	nsv865	chr12:104030102-104074864	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv560038	chr12:104053420-104092996	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs831427	NT5DC3	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104033200-104062200	Weak transcription	Spleen	Spleen
2	chr12:104047000-104059400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:104052200-104059200	Weak transcription	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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