Variant report

Variant	rs16872592
Chromosome Location	chr6:12301321-12301322
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16872602	0.88[EUR][1000 genomes]
rs16872628	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16872650	0.85[CEU][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16872653	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6899673	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906760	0.97[EUR][1000 genomes]
rs7356986	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296345	1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9471435	0.97[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	nsv508394	chr6:12285464-12386745	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16872592	TBC1D7	cis	parietal	SCAN
rs16872592	TBC1D7	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12296600-12314400	Weak transcription	Spleen	Spleen
2	chr6:12297200-12311200	Weak transcription	HUVEC	blood vessel
3	chr6:12298200-12302600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:12298200-12303200	Weak transcription	Fetal Intestine Small	intestine
5	chr6:12298200-12305600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:12298600-12304000	Weak transcription	NHEK	skin
7	chr6:12300200-12303200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:12300600-12302800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:12300800-12304200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:12301200-12302400	Strong transcription	A549	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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