Variant report

Variant	rs2677829
Chromosome Location	chr6:133934829-133934830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133929403..133932343-chr6:133932388..133934855,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11154736	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1320114	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1878550	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2251873	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2256702	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2459696	0.80[EUR][1000 genomes]
rs2459697	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636590	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636591	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636611	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2636612	0.98[ASN][1000 genomes]
rs2636614	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636615	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636617	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636619	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636623	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2636626	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2677812	0.87[ASN][1000 genomes]
rs2677825	0.82[ASN][1000 genomes]
rs2677827	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677832	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2677835	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2677836	0.94[ASN][1000 genomes]
rs3021401	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4410743	0.91[ASN][1000 genomes]
rs4895979	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62427502	0.83[ASN][1000 genomes]
rs6920911	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6922365	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7746271	0.93[ASN][1000 genomes]
rs9375970	0.83[ASN][1000 genomes]
rs9385655	0.84[ASN][1000 genomes]
rs9385656	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9385657	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9389090	0.80[ASN][1000 genomes]
rs9402519	0.83[ASN][1000 genomes]
rs9493660	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886682	chr6:133892208-133943732	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1019267	chr6:133912335-133975187	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2677829	PDE7B	cis	cerebellum	SCAN
rs2677829	C6orf191	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133929000-133935600	Enhancers	Hela-S3	cervix
2	chr6:133932200-133944200	Weak transcription	NH-A	brain
3	chr6:133933000-133935000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:133933000-133935400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:133933800-133935000	Enhancers	Fetal Stomach	stomach
6	chr6:133934000-133935000	Enhancers	A549	lung
7	chr6:133934000-133935400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:133934000-133936200	Enhancers	Fetal Lung	lung
9	chr6:133934200-133935000	Enhancers	Fetal Kidney	kidney
10	chr6:133934200-133935400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:133934400-133935000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:133934600-133936400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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