Variant report

Variant	rs299826
Chromosome Location	chr17:63108458-63108459
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	chr17:63106164..63108847-chr17:63116672..63121069,3	MCF-7	breast:
2	chr17:63101310..63103493-chr17:63108263..63110004,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17688887	1.00[YRI][hapmap]
rs299821	1.00[YRI][hapmap]
rs299824	1.00[JPT][hapmap]
rs446575	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv575872	chr17:63084995-63111452	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs299826	POLG2	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63097400-63112000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:63097600-63111800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr17:63097800-63112200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:63103000-63118800	Weak transcription	Aorta	Aorta
5	chr17:63103200-63108600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr17:63103200-63112400	Weak transcription	Ovary	ovary
7	chr17:63103200-63118400	Weak transcription	Left Ventricle	heart
8	chr17:63103200-63118800	Weak transcription	Right Atrium	heart
9	chr17:63103400-63109800	Weak transcription	Fetal Stomach	stomach
10	chr17:63103400-63118600	Weak transcription	Brain Anterior Caudate	brain
11	chr17:63103400-63118600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr17:63103800-63118600	Weak transcription	Psoas Muscle	Psoas
13	chr17:63104000-63108800	Weak transcription	Fetal Muscle Leg	muscle
14	chr17:63104000-63118600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr17:63104000-63118800	Weak transcription	Colon Smooth Muscle	Colon
16	chr17:63104200-63118600	Weak transcription	Brain Hippocampus Middle	brain
17	chr17:63104400-63118600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:63106200-63119000	Weak transcription	Fetal Lung	lung
19	chr17:63106400-63118600	Weak transcription	Adipose Nuclei	Adipose
20	chr17:63106600-63109800	Weak transcription	NHDF-Ad	bronchial
21	chr17:63107200-63110800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:63107800-63112200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr17:63108000-63118600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr17:63108400-63112200	Weak transcription	K562	blood

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