Variant report

Variant	rs12064344
Chromosome Location	chr1:76676058-76676059
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10873871	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1486931	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.91[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	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1801297	chr1:76673530-76686142	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12064344	USP33	cis	cerebellum	SCAN
rs12064344	TNNI3K	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76674600-76676600	Enhancers	Primary T cells from cord blood	blood
2	chr1:76674600-76676800	Enhancers	Fetal Thymus	thymus
3	chr1:76674800-76676800	Enhancers	Thymus	Thymus
4	chr1:76675000-76676200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:76675000-76676200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:76675000-76676400	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:76675000-76676400	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:76675000-76676600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr1:76675200-76676400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:76675200-76677600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:76675400-76676200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:76675400-76676400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:76675800-76677000	Weak transcription	Lung	lung

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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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