Variant report

Variant	rs4708296
Chromosome Location	chr6:77585017-77585018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10943391	0.94[EUR][1000 genomes]
rs12205747	0.94[EUR][1000 genomes]
rs2050427	0.93[AFR][1000 genomes]
rs2315639	0.96[EUR][1000 genomes]
rs4706637	0.97[EUR][1000 genomes]
rs4706638	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915022	0.96[EUR][1000 genomes]
rs9341611	0.93[EUR][1000 genomes]
rs9343521	0.97[EUR][1000 genomes]
rs9361163	0.93[EUR][1000 genomes]
rs9447871	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9447874	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019520	chr6:77355212-77875164	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538321	chr6:77355212-77875164	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830701	chr6:77509152-77678602	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv432924	chr6:77566201-77617213	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	esv3387181	chr6:77571282-77594741	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
6	nsv886222	chr6:77577055-77734250	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4708296	MYO6	cis	cerebellum	SCAN
rs4708296	KCNQ5	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77584000-77585400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:77585000-77585400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr6:77585000-77585400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:77585000-77585400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
5	chr6:77585000-77585400	Enhancers	Pancreas	Pancrea
6	chr6:77585000-77585600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr6:77585000-77585600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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