Variant report

Variant	rs432705
Chromosome Location	chr2:21581611-21581612
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10865318	0.90[EUR][1000 genomes]
rs219515	0.84[AMR][1000 genomes]
rs219562	0.90[ASN][1000 genomes]
rs635141	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6730605	0.90[EUR][1000 genomes]
rs892459	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011486	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535602	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv455863	chr2:21547003-21615340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv581170	chr2:21547003-21615340	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs432705	FKBP1B	cis	cerebellum	SCAN
rs432705	TP53I3	cis	cerebellum	SCAN
rs432705	MEIS2	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21580000-21581800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:21580000-21583400	Weak transcription	HMEC	breast
3	chr2:21580200-21583600	Weak transcription	NHEK	skin
4	chr2:21580600-21583200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr2:21581200-21582000	Enhancers	Aorta	Aorta
6	chr2:21581600-21582400	Enhancers	Fetal Lung	lung
7	chr2:21581600-21585800	Enhancers	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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