Variant report

Variant	rs17277008
Chromosome Location	chr1:172105162-172105163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10489297	1.00[CHB][hapmap]
rs10910941	1.00[CHB][hapmap]
rs10914141	1.00[JPT][hapmap]
rs11584244	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11584664	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584955	1.00[CHB][hapmap]
rs11589142	1.00[CHB][hapmap]
rs11589349	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123334	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12129264	1.00[CHB][hapmap]
rs12145177	1.00[JPT][hapmap]
rs16843855	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16843860	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17277015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17277127	1.00[CHB][hapmap]
rs17346438	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17346452	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17346473	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17350544	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17350579	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17350586	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17361789	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17361920	1.00[CHB][hapmap]
rs17472925	1.00[JPT][hapmap]
rs2209096	1.00[CHB][hapmap]
rs2421990	1.00[CHB][hapmap]
rs2421991	1.00[CHB][hapmap]
rs4540689	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs593688	1.00[CHB][hapmap]
rs60077625	0.95[EUR][1000 genomes]
rs61807762	0.84[ASN][1000 genomes]
rs61807763	0.84[ASN][1000 genomes]
rs61807784	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61807786	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61807787	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628479	1.00[CHB][hapmap]
rs6694089	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17277008	DNM3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172049400-172110800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:172062400-172109200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:172077200-172110600	Weak transcription	Brain Angular Gyrus	brain
4	chr1:172085800-172113400	Weak transcription	Pancreas	Pancrea
5	chr1:172090000-172109600	Weak transcription	Brain Germinal Matrix	brain
6	chr1:172090400-172108800	Weak transcription	Fetal Stomach	stomach
7	chr1:172094600-172110600	Weak transcription	Left Ventricle	heart
8	chr1:172096400-172110600	Weak transcription	Brain Substantia Nigra	brain
9	chr1:172100200-172108600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:172101200-172107800	Weak transcription	Psoas Muscle	Psoas
11	chr1:172102000-172113400	Weak transcription	Lung	lung
12	chr1:172102400-172106000	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:172102600-172113400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:172102600-172113600	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:172103200-172110400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:172103400-172107800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:172103600-172105200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:172103600-172105400	Weak transcription	HSMM	muscle
19	chr1:172103800-172105200	Weak transcription	NHDF-Ad	bronchial
20	chr1:172103800-172106000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:172103800-172106200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:172103800-172108000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:172103800-172109200	Weak transcription	Brain Anterior Caudate	brain
24	chr1:172104000-172107600	Weak transcription	HMEC	breast
25	chr1:172104000-172107800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:172104200-172107600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:172104200-172107600	Weak transcription	NHEK	skin
28	chr1:172104400-172106400	Enhancers	HUVEC	blood vessel
29	chr1:172104400-172107400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:172104400-172107800	Weak transcription	Ovary	ovary
31	chr1:172104800-172105400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:172104800-172105400	Enhancers	Osteobl	bone
33	chr1:172104800-172106200	Enhancers	NH-A	brain
34	chr1:172105000-172105400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:172105000-172106400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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