Variant report

Variant	rs6915291
Chromosome Location	chr6:56220394-56220395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11751569	0.80[CHB][hapmap]
rs11757910	0.82[CHB][hapmap]
rs11757941	0.82[CHB][hapmap]
rs12110833	0.82[CHB][hapmap]
rs13218268	0.81[CHB][hapmap]
rs13220153	0.82[CHB][hapmap]
rs16887812	0.82[CHB][hapmap]
rs2206531	0.89[CHB][hapmap]
rs2206533	0.88[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs2223593	0.85[LWK][hapmap];0.84[MKK][hapmap]
rs2294697	0.82[CHB][hapmap]
rs2397220	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715616	0.89[CHB][hapmap]
rs4715617	0.89[CHB][hapmap];0.88[GIH][hapmap]
rs9296842	0.89[CHB][hapmap];0.88[GIH][hapmap]
rs9370525	0.82[CHB][hapmap]
rs9382623	0.89[CHB][hapmap]
rs9382624	0.82[CHB][hapmap]
rs994376	0.89[CHB][hapmap];0.88[GIH][hapmap]

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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6915291	COL21A1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56212000-56221000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:56214800-56221000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:56218400-56229200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:56219200-56221000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:56219400-56223400	Enhancers	Fetal 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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