Variant report

Variant	rs1550646
Chromosome Location	chr17:66836520-66836521
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	chr17:66802632..66805530-chr17:66835836..66838172,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1443259	0.99[EUR][1000 genomes]
rs1443261	1.00[MEX][hapmap]
rs1443262	0.83[EUR][1000 genomes]
rs1443263	0.91[EUR][1000 genomes]
rs1470294	0.97[EUR][1000 genomes]
rs1481	0.84[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1808919	0.94[EUR][1000 genomes]
rs1838100	0.99[EUR][1000 genomes]
rs1838101	0.82[EUR][1000 genomes]
rs1867235	0.97[EUR][1000 genomes]
rs1899576	0.91[EUR][1000 genomes]
rs1978962	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083790	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2363753	1.00[ASN][1000 genomes]
rs4147992	1.00[JPT][hapmap]
rs4246431	1.00[MEX][hapmap]
rs4556855	0.93[EUR][1000 genomes]
rs4968962	0.97[EUR][1000 genomes]
rs4968967	1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs57304003	1.00[ASN][1000 genomes]
rs6501766	0.97[EUR][1000 genomes]
rs6501767	0.97[EUR][1000 genomes]
rs6501768	0.97[EUR][1000 genomes]
rs6501799	0.85[EUR][1000 genomes]
rs6501813	0.83[EUR][1000 genomes]
rs6501839	1.00[MEX][hapmap]
rs7211979	1.00[MEX][hapmap]
rs7216817	1.00[ASN][1000 genomes]
rs8068204	1.00[MEX][hapmap]
rs8074944	0.86[CEU][hapmap]
rs8078168	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080098	1.00[MEX][hapmap]
rs8082619	1.00[EUR][1000 genomes]
rs894593	0.96[EUR][1000 genomes]
rs980423	0.96[EUR][1000 genomes]
rs9895868	0.97[EUR][1000 genomes]
rs9908305	0.87[AFR][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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv908694	chr17:66802992-66913936	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1550646	LOC440461	cis	parietal	SCAN
rs1550646	POLG2	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66830200-66839600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr17:66831400-66839200	Weak transcription	Ovary	ovary
3	chr17:66834400-66845800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr17:66835800-66836800	Enhancers	Brain Hippocampus Middle	brain
5	chr17:66836000-66836600	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr17:66836000-66836800	Enhancers	Brain Cingulate Gyrus	brain
7	chr17:66836000-66837000	Enhancers	Adipose Nuclei	Adipose
8	chr17:66836200-66836800	Enhancers	Fetal Muscle Leg	muscle

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