Variant report

Variant	rs8068047
Chromosome Location	chr17:66978062-66978063
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs61697543	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7217005	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844578	0.87[AMR][1000 genomes]
rs72844581	0.87[AMR][1000 genomes]
rs72851720	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72851722	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72851723	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72851731	0.87[AMR][1000 genomes]
rs72851733	0.87[AMR][1000 genomes]
rs72851734	0.87[AMR][1000 genomes]
rs72851735	0.87[AMR][1000 genomes]
rs9894510	1.00[CEU][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv908700	chr17:66885526-66985992	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv908701	chr17:66888346-66978319	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1849165	chr17:66899261-66978319	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv908703	chr17:66904001-66978319	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66965600-66980200	Weak transcription	Brain Anterior Caudate	brain
2	chr17:66965600-66986000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr17:66969200-66982800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr17:66970800-66984000	Weak transcription	Spleen	Spleen
5	chr17:66971000-66987800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr17:66972600-66981600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr17:66973600-66980000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr17:66977000-66978200	Enhancers	HUVEC	blood vessel
9	chr17:66977200-66978600	Enhancers	NHDF-Ad	bronchial
10	chr17:66977200-66982800	Strong transcription	Ovary	ovary
11	chr17:66977400-66981600	Weak transcription	Brain Angular Gyrus	brain
12	chr17:66977400-66984200	Weak transcription	Gastric	stomach
13	chr17:66977400-66989400	Weak transcription	Pancreas	Pancrea
14	chr17:66977600-66978600	Weak transcription	Liver	Liver
15	chr17:66977600-66981200	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr17:66977600-67001400	Weak transcription	Fetal Lung	lung
17	chr17:66977800-66978200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:66977800-66978200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:66977800-66978400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr17:66977800-66978800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr17:66977800-66979800	Weak transcription	Right Atrium	heart
22	chr17:66977800-66981000	Weak transcription	Fetal Muscle Leg	muscle
23	chr17:66977800-66984000	Weak transcription	HepG2	liver
24	chr17:66977800-66987600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:66977800-66991000	Weak transcription	Fetal Stomach	stomach
26	chr17:66977800-66991600	Strong transcription	Adipose Nuclei	Adipose
27	chr17:66977800-67027400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr17:66978000-66978600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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