Variant report

Variant	rs7766109
Chromosome Location	chr6:6256833-6256834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs17141937	0.91[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2295752	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs3024391	0.95[CHB][hapmap];0.88[CHD][hapmap];0.84[ASN][1000 genomes]
rs34736558	0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs3851514	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs3863221	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9379021	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs9379022	0.91[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs9392764	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[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	nsv883421	chr6:6163492-6574384	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv883422	chr6:6163492-6769930	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
3	nsv520166	chr6:6255851-6256833	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7766109	RIOK1	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:6250400-6262600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr6:6250800-6258400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr6:6255400-6257800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr6:6255600-6257800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:6255800-6260400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:6256000-6257000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:6256200-6257800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:6256400-6257200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr6:6256400-6257600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:6256400-6257800	Enhancers	HSMM	muscle
11	chr6:6256400-6258000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:6256400-6258000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:6256400-6258400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:6256600-6257600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:6256600-6258000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:6256600-6258000	Enhancers	HSMMtube	muscle
17	chr6:6256600-6258600	Weak transcription	Duodenum Mucosa	Duodenum

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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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