Variant report

Variant	rs17129318
Chromosome Location	chr1:67136365-67136366
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10493412	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10493413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889630	0.88[CHB][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap]
rs10889646	0.85[JPT][hapmap]
rs11208921	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11208933	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11208935	0.85[ASN][1000 genomes]
rs11208943	0.82[JPT][hapmap]
rs11208946	0.82[JPT][hapmap]
rs1159632	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs12077192	0.85[ASN][1000 genomes]
rs12117202	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12137531	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs12141816	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12407460	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1325262	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs1325264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1536112	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17129256	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17129302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17129310	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17436311	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1998716	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2025594	0.85[JPT][hapmap]
rs2147776	0.85[ASN][1000 genomes]
rs4147266	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs45467391	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56004227	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56374735	0.85[ASN][1000 genomes]
rs6687096	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs6689755	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6692318	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6699200	0.86[CHB][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap]
rs6703606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669484	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7548488	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs975878	0.86[CHB][hapmap];0.85[JPT][hapmap]

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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67090400-67155000	Weak transcription	Fetal Heart	heart
2	chr1:67100000-67144400	Weak transcription	Left Ventricle	heart
3	chr1:67106200-67143000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:67109200-67141800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:67109600-67155000	Weak transcription	Brain Anterior Caudate	brain
6	chr1:67111400-67154800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:67114200-67142000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:67114200-67156400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:67114600-67142200	Weak transcription	NHLF	lung
10	chr1:67118800-67138800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:67118800-67140400	Weak transcription	Aorta	Aorta
12	chr1:67121200-67145400	Weak transcription	Brain Angular Gyrus	brain
13	chr1:67122000-67141200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:67131800-67141600	Weak transcription	NH-A	brain
15	chr1:67133200-67139200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:67133200-67141800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:67135000-67137200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:67135000-67137800	Enhancers	Fetal Brain Male	brain
19	chr1:67135200-67154200	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:67135600-67137200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:67135600-67155400	Weak transcription	Brain Substantia Nigra	brain
22	chr1:67135800-67141800	Weak transcription	NHDF-Ad	bronchial
23	chr1:67136000-67137000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:67136200-67137400	Enhancers	Fetal Brain Female	brain

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