Variant report

Variant	rs6718711
Chromosome Location	chr2:190993362-190993363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10931444	0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10931445	0.94[ASW][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11690233	0.82[EUR][1000 genomes]
rs12988305	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13004255	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1864242	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2262781	0.87[EUR][1000 genomes]
rs4853668	0.88[GIH][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap]
rs4853675	0.85[GIH][hapmap];0.82[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	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6718711	TMEM194B	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190985000-190997200	Weak transcription	Left Ventricle	heart
2	chr2:190991800-191004800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:190992200-190994400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:190992400-190995200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:190992800-190993400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr2:190993200-191004800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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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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