Variant report

Variant	rs2164197
Chromosome Location	chr8:69560298-69560299
allele	A/G
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:16)

rs_ID	r²[population]
rs10087440	0.90[CHB][hapmap];0.80[GIH][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10100961	0.85[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs11783166	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs11785516	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13258211	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1434926	0.93[ASN][1000 genomes]
rs1434927	0.85[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs1434932	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1434934	0.84[ASN][1000 genomes]
rs1529830	0.85[ASN][1000 genomes]
rs34419520	0.93[ASN][1000 genomes]
rs6472414	0.84[ASN][1000 genomes]
rs6472415	0.84[ASN][1000 genomes]
rs67671284	0.81[ASN][1000 genomes]
rs6989204	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7812930	0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv890985	chr8:69532253-69586034	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv831349	chr8:69555461-69733515	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2164197	MTFR1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69545200-69572800	Weak transcription	Aorta	Aorta
2	chr8:69553200-69560400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:69553200-69560800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:69553200-69560800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:69554000-69560600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:69554400-69560600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:69559600-69561400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:69559800-69562200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:69560200-69561800	Enhancers	HUES64 Cell Line	embryonic stem cell

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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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