Variant report

Variant	rs1917362
Chromosome Location	chr7:124278363-124278364
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10253582	0.84[EUR][1000 genomes]
rs10264807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10265015	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10266863	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10954042	0.82[EUR][1000 genomes]
rs11977720	0.84[EUR][1000 genomes]
rs13228817	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13245806	1.00[CEU][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs1404404	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1524757	0.82[EUR][1000 genomes]
rs1540830	0.93[EUR][1000 genomes]
rs1917361	0.91[EUR][1000 genomes]
rs2049438	0.90[EUR][1000 genomes]
rs2049439	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2204380	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2204381	0.91[EUR][1000 genomes]
rs34541525	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4731194	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7784041	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv831118	chr7:124172267-124347527	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3331383	chr7:124249050-124281444	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1917362	NDUFA5	cis	parietal	SCAN
rs1917362	C7orf58	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124271400-124287600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:124274400-124285800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:124276800-124280400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:124277000-124280400	Weak transcription	iPS-18 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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