Variant report

Variant	rs3798384
Chromosome Location	chr6:117716199-117716200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1321806	1.00[ASW][hapmap];0.83[GIH][hapmap];0.97[LWK][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs1321807	0.97[LWK][hapmap];0.88[YRI][hapmap]
rs1535329	0.95[ASN][1000 genomes]
rs1535330	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs2038497	0.83[AFR][1000 genomes]
rs2243383	0.84[YRI][hapmap]
rs3798381	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3798383	0.92[YRI][hapmap]
rs3798385	0.91[CEU][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs7738672	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7745302	0.88[YRI][hapmap]
rs9320595	0.81[AFR][1000 genomes]
rs9320597	0.88[YRI][hapmap]
rs9374653	0.92[AFR][1000 genomes]
rs9374655	1.00[ASW][hapmap];0.81[GIH][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs9387466	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9401001	0.92[LWK][hapmap];0.88[YRI][hapmap]
rs9481704	0.91[CEU][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3798384	FRK	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117662000-117717200	Weak transcription	HSMMtube	muscle
2	chr6:117692600-117735800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:117692800-117717400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:117713800-117717200	Weak transcription	HepG2	liver
5	chr6:117715800-117716600	Strong transcription	HSMM	muscle
6	chr6:117716000-117716200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:117716000-117718000	Enhancers	Liver	Liver
8	chr6:117716000-117718000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr6:117716000-117718000	Enhancers	Skeletal Muscle Female	skeletal muscle

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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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